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

1–12 of 5659 variants

187 papers

NM_000179.3

p.P1087insFs

c.3261dupC

148 papers

NM_000179.3

p.F1088fs

c.3262_3263fs

144 papers

NM_000179.3

p.P1087delFs

c.3261delC

135 papers

NM_000179.3

p.G39E

c.116G>A

110 papers

NM_000179.3

p.F1088fs

c.3262_3263fs

90 papers

NM_000179.3

p.R1076C

c.3226C>T

81 papers

NM_000179.3

p.V878A

c.2633T>C

75 papers

NM_000179.3

p.R911*

c.2731C>T

63 papers

NM_000179.3

p.A1320_R1321delFs

c.3959_3962del4

60 papers

NM_000179.3

p.Q1328_S1329insFs

c.3984_3987dup4

52 papers

NM_000179.3

p.S144I

c.431G>T

49 papers

NM_000179.3

p.R482*

c.1444C>T