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

13 papers

NM_000179.3

p.A1055T

c.3163G>A

Surrounding Variants

7 papers

NM_000179.3

p.A1055P

c.3163G>C

1 paper

NM_000179.3

p.A1055delFs

c.3164_3165delCA

1 paper

NM_000179.3

p.A1055insFs

c.3163dupG

3 papers

NM_000179.3

p.I1054I

c.3162C>T

1 paper

NM_000179.3

p.A1055V

c.3164C>T

1 paper

NM_000179.3

p.V1056delFs

c.3166delG

1 paper

NM_000179.3

p.I1054V

c.3160A>G

15 papers

NM_000179.3

p.I1054F

c.3160A>T

4 papers

NM_000179.3

p.V1056M

c.3166G>A

2 papers

NM_000179.3

p.V1056L

c.3166G>C

1 paper

NM_000179.3

p.V1056insFs

c.3166_3167ins4

2 papers

NM_000179.3

p.V1056L

c.3166G>T