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.G1316R

c.3946G>C

Surrounding Variants

3 papers

NM_000179.3

p.G1316R

c.3946G>A

1 paper

NM_000179.3

p.G1316fs

c.3946_3947fs

1 paper

NM_000179.3

p.G1316ins1

c.3946_3947insTGT

1 paper

NM_000179.3

p.G1316*

c.3946G>T

1 paper

NM_000179.3

p.G1316fs

c.3946_3947fs

1 paper

NM_000179.3

p.H1317_E1322delFs

c.3949_3965del17

2 papers

NM_000179.3

p.G1316E

c.3947G>A

2 papers

NM_000179.3

p.K1315T

c.3944A>C

1 paper

NM_000179.3

p.K1315R

c.3944A>G

1 paper

NM_000179.3

p.H1317_A1320delFs

c.3951_3960del10

1 paper

NM_000179.3

p.K1315fs

c.3943_3944fs

1 paper

NM_000179.3

p.H1317_R1318insFs

c.3951_3952dupTA