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.Y433fs

c.1297_1298fs

Surrounding Variants

3 papers

NM_000179.3

p.Y433S

c.1298A>C

1 paper

NM_000179.3

p.Y433delFs

c.1299delT

6 papers

NM_000179.3

p.F432L

c.1296T>A

6 papers

NM_000179.3

p.F432L

c.1296T>G

4 papers

NM_000179.3

p.Y433*

c.1299T>A

10 papers

NM_000179.3

p.F432S

c.1295T>C

4 papers

NM_000179.3

p.Y433*

c.1299T>G

2 papers

NM_000179.3

p.F432C

c.1295T>G

1 paper

NM_000179.3

p.F432insFs

c.1295_1296insAA

6 papers

NM_000179.3

p.F432L

c.1294T>C

1 paper

NM_000179.3

p.F432fs

c.1294_1295fs

2 papers

NM_000179.3

p.Y433insFs

c.1297dupT