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

3 papers

NM_000179.3

p.M438insFs

c.1312_1313insA

Surrounding Variants

1 paper

NM_000179.3

p.H437_M438delins

c.1311_1312delinsGC

1 paper

NM_000179.3

p.M438fs

c.1312_1313fs

2 papers

NM_000179.3

p.H437R

c.1310A>G

1 paper

NM_000179.3

p.M438V

c.1312A>G

1 paper

NM_000179.3

p.H437fs

c.1309_1310fs

2 papers

NM_000179.3

p.H437D

c.1309C>G

3 papers

NM_000179.3

p.H437Y

c.1309C>T

2 papers

NM_000179.3

p.Y436*

c.1308C>A

2 papers

NM_000179.3

p.Y436*

c.1308C>G

1 paper

NM_000179.3

p.H437insFs

c.1309dupC

4 papers

NM_000179.3

p.D439G

c.1316A>G

1 paper

NM_000179.3

p.A440del1

c.1318_1320delGCT