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.I872insFs

c.2615_2616dupTA

Surrounding Variants

2 papers

NM_000179.3

p.I871fs

c.2611_2612fs

2 papers

NM_000179.3

p.I871fs

c.2611_2612fs

1 paper

NM_000179.3

p.I872_M875del4

c.2614_2624del12

1 paper

NM_000179.3

p.I872fs

c.2614_2615fs

1 paper

NM_000179.3

p.K870N

c.2610A>T

1 paper

NM_000179.3

p.I872fs

c.2614_2615fs

3 papers

NM_000179.3

p.I871_I872insFs

c.2611_2614dup4

1 paper

NM_000179.3

p.I872T

c.2615T>C

1 paper

NM_000179.3

p.K870E

c.2608A>G

1 paper

NM_000179.3

p.G873delFs

c.2618_2619delGG

2 papers

NM_000179.3

p.G873fs

c.2617_2618fs

2 papers

NM_000179.3

p.K870insFs

c.2608dupA