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.E995*

c.2983G>T

Surrounding Variants

5 papers

NM_000179.3

p.E995K

c.2983G>A

1 paper

NM_000179.3

p.E995Q

c.2983G>C

1 paper

NM_000179.3

p.E995fs

c.2983_2984fs

2 papers

NM_000179.3

p.E995delFs

c.2984delA

6 papers

NM_000179.3

p.Y994*

c.2982C>A

6 papers

NM_000179.3

p.Y994*

c.2982C>G

1 paper

NM_000179.3

p.Y994Y

c.2982C>T

4 papers

NM_000179.3

p.Y994N

c.2980T>A

1 paper

NM_000179.3

p.Y994H

c.2980T>C

1 paper

NM_000179.3

p.E993E

c.2979A>G

1 paper

NM_000179.3

p.K997delFs

c.2991delA

1 paper

NM_000179.3

p.K997fs

c.2989_2990fs