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.R1318K

c.3953G>A

Surrounding Variants

9 papers

NM_000179.3

p.K1319insFs

c.3957dupA

4 papers

NM_000179.3

p.K1319insFs

c.3956_3957dupAA

1 paper

NM_000179.3

p.R1318I

c.3953G>T

2 papers

NM_000179.3

p.K1319delFs

c.3957delA

1 paper

NM_000179.3

p.K1319_N1327delFs

c.3955_3980del26

5 papers

NM_000179.3

p.R1318fs

c.3952_3953fs

3 papers

NM_000179.3

p.R1318*

c.3952A>T

2 papers

NM_000179.3

p.R1318fs

c.3952_3953fs

5 papers

NM_000179.3

p.K1319fs

c.3955_3956fs

1 paper

NM_000179.3

p.K1319Q

c.3955A>C

63 papers

NM_000179.3

p.A1320_R1321delFs

c.3959_3962del4

1 paper

NM_000179.3

p.H1317Q

c.3951T>G