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.T395T

c.1185A>G

Surrounding Variants

1 paper

NM_000179.3

p.L396_Y397delFs

c.1188_1189delCT

1 paper

NM_000179.3

p.T395insFs

c.1185dupA

1 paper

NM_000179.3

p.L396fs

c.1186_1187fs

42 papers

NM_000179.3

p.L396V

c.1186C>G

1 paper

NM_000179.3

p.T395I

c.1184C>T

1 paper

NM_000179.3

p.L396F

c.1186C>T

1 paper

NM_000179.3

p.L396R

c.1187T>G

1 paper

NM_000179.3

p.L396insFs

c.1187_1188insGG

1 paper

NM_000179.3

p.L396_L403delFs

c.1188_1207del20

1 paper

NM_000179.3

p.L396_Y397insFs

c.1188_1189insGA

6 papers

NM_000179.3

p.Y397insFs

c.1189_1190insT

1 paper

NM_000179.3

p.Y397insFs

c.1190_1191dupAT