GIPC1 R248W

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Mutation:

Summary

Isoform:

NM_005716

Position:

248

Ref:

Mutation:

PTM impact:

direct

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.0199681]

PTM Site: 242T

Affected site:

Position: 242

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
238S	QLG[T/S]TGRGTLRLRSRG	4	distal
248W	QLGTGRGTLRLRS[R/W]RG	6	distal
238P	QLG[T/P]TGRGTLRLRSRG	4	distal
237D	QL[G/D]GTGRGTLRLRSRG	5	distal

PTM Site: 247S

Affected site:

Position: 247

Residue: S

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
248W	RGTLRLRS[R/W]RGPATVE	1	proximal

PTM Site: 248R

Affected site:

Position: 248

Residue: R

Type: methylation

Impact:

direct

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
248W	GTLRLRS[R/W]RGPATVED	0	direct

If you have any questions or feedback about this mutation: