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

10 papers

NM_000179.3

p.K247delFs

c.741delA

Surrounding Variants

1 paper

NM_000179.3

p.I245K

c.734T>A

12 papers

NM_000179.3

p.K247insFs

c.741dupA

6 papers

NM_000179.3

p.K246_K247delFs

c.738_741del4

5 papers

NM_000179.3

p.I245fs

c.733_734fs

3 papers

NM_000179.3

p.I245L

c.733A>C

4 papers

NM_000179.3

p.I245L

c.733A>T

2 papers

NM_000179.3

p.K246fs

c.736_737fs

4 papers

NM_000179.3

p.K246E

c.736A>G

1 paper

NM_000179.3

p.K246*

c.736A>T

2 papers

NM_000179.3

p.K246fs

c.736_737fs

2 papers

NM_000179.3

p.K246_K247Fs

c.736_741delinsTGTGTGTGAAGFs

2 papers

NM_000179.3

p.Q244R

c.731A>G