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.F451_M452delFs

c.1352_1355del4

Surrounding Variants

3 papers

NM_000179.3

p.F451delFs

c.1352delT

1 paper

NM_000179.3

p.V450I

c.1348G>A

1 paper

NM_000179.3

p.V450_F451insAGT

c.1348_1352ins9

3 papers

NM_000179.3

p.V450_F451delFs

c.1350_1351delAT

1 paper

NM_000179.3

p.L449_W456Fs

c.1347_1368delinsTAAAAFs

5 papers

NM_000179.3

p.F451fs

c.1351_1352fs

1 paper

NM_000179.3

p.F451Fs

c.1352delinsACFs

25 papers

NM_000179.3

p.L449P

c.1346T>C

1 paper

NM_000179.3

p.L449_H458insFs

c.1347_1372dup26

4 papers

NM_000179.3

p.M452V

c.1354A>G

1 paper

NM_000179.3

p.M452K

c.1355T>A

2 papers

NM_000179.3

p.M452T

c.1355T>C