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.Q894H

c.2682G>T

Surrounding Variants

1 paper

NM_000179.3

p.Q894H

c.2682G>C

1 paper

NM_000179.3

p.T895_K896del2

c.2683_2687del6

3 papers

NM_000179.3

p.T895fs

c.2683_2684fs

1 paper

NM_000179.3

p.Q894R

c.2681A>G

2 papers

NM_000179.3

p.T895S

c.2683A>T

6 papers

NM_000179.3

p.N897insFs

c.2690_2691insA

6 papers

NM_000179.3

p.Q894*

c.2680C>T

3 papers

NM_000179.3

p.N897delFs

c.2690delA

1 paper

NM_000179.3

p.K896_N897delFs

c.2687_2690del4

1 paper

NM_000179.3

p.Q894delFs

c.2680_2681delCA

1 paper

NM_000179.3

p.K896fs

c.2686_2687fs

3 papers

NM_000179.3

p.K896E

c.2686A>G