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

2 papers

NM_000179.3

p.V480L

c.1438G>C

Surrounding Variants

1 paper

NM_000179.3

p.V480I

c.1438G>A

1 paper

NM_000179.3

p.V480fs

c.1438_1439fs

2 papers

NM_000179.3

p.V480L

c.1438G>T

2 papers

NM_000179.3

p.V480fs

c.1438_1439fs

1 paper

NM_000179.3

p.V480_A481Fs

c.1438_1443delinsCGFs

1 paper

NM_000179.3

p.V480insFs

c.1438dupG

6 papers

NM_000179.3

p.V480E

c.1439T>A

1 paper

NM_000179.3

p.V480_A481insFs

c.1440_1441insA

1 paper

NM_000179.3

p.V480_A481ins0

c.1439_1441dupTAG

1 paper

NM_000179.3

p.K479T

c.1436A>C

1 paper

NM_000179.3

p.K479R

c.1436A>G

1 paper

NM_000179.3

p.K479Q

c.1435A>C