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

2 papers

NM_000179.3

p.I967K

c.2900T>A

Surrounding Variants

1 paper

NM_000179.3

p.V968insFs

c.2902dupG

2 papers

NM_000179.3

p.I967V

c.2899A>G

1 paper

NM_000179.3

p.V968fs

c.2902_2903fs

2 papers

NM_000179.3

p.V968V

c.2904C>A

1 paper

NM_000179.3

p.V968V

c.2904C>G

8 papers

NM_000179.3

p.Y969delFs

c.2906_2907delAT

1 paper

NM_000179.3

p.R965R

c.2895G>A

2 papers

NM_000179.3

p.Y969fs

c.2905_2906fs

4 papers

NM_000179.3

p.Y969fs

c.2905_2906fs

1 paper

NM_000179.3

p.Y969S

c.2906A>C

19 papers

NM_000179.3

p.Y969C

c.2906A>G

2 papers

NM_000179.3

p.Y969F

c.2906A>T