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

15 papers

NM_000179.3

p.R248Q

c.743G>A

Surrounding Variants

2 papers

NM_000179.3

p.R248P

c.743G>C

1 paper

NM_000179.3

p.R249insFs

c.745dupA

2 papers

NM_000179.3

p.R248L

c.743G>T

1 paper

NM_000179.3

p.R249_V250del2

c.745_749del6

1 paper

NM_000179.3

p.R248R

c.742C>A

10 papers

NM_000179.3

p.R248fs

c.742_743fs

2 papers

NM_000179.3

p.R248G

c.742C>G

22 papers

NM_000179.3

p.R248*

c.742C>T

8 papers

NM_000179.3

p.R248fs

c.742_743fs

3 papers

NM_000179.3

p.R248insFs

c.742dupC

6 papers

NM_000179.3

p.R248delFs

c.742delC

1 paper

NM_000179.3

p.K247R

c.740A>G