Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.K504fs

c.1510_1511fs

Surrounding Variants

1 paper

NM_000179.3

p.K504fs

c.1510_1511fs

1 paper

NM_000179.3

p.K504*

c.1510A>T

1 paper

NM_000179.3

p.K504delFs

c.1512delG

1 paper

NM_000179.3

p.S503Y

c.1508C>A

30 papers

NM_000179.3

p.S503C

c.1508C>G

NM_001281492.2

p.S373C

c.1118C>G

1 paper

NM_000179.3

p.S503F

c.1508C>T

1 paper

NM_000179.3

p.S503delFs

c.1509delC

1 paper

NM_000179.3

p.Y505*

c.1515T>A

2 papers

NM_000179.3

p.I502T

c.1505T>C

1 paper

NM_000179.3

p.Y505*

c.1515T>G

1 paper

NM_000179.3

p.I502fs

c.1504_1505fs

1 paper

NM_000179.3

p.I502V

c.1504A>G