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.Y151insFs

c.453dupT

Surrounding Variants

2 papers

NM_000179.3

p.Y151C

c.452A>G

1 paper

NM_000179.3

p.Y151delFs

c.452delA

1 paper

NM_000179.3

p.T152delFs

c.454delA

1 paper

NM_000179.3

p.P150_Y151ins1

c.450_451insAGT

2 papers

NM_000179.3

p.T152insFs

c.455dupC

1 paper

NM_000179.3

p.T152fs

c.454_455fs

2 papers

NM_000179.3

p.P150L

c.449C>T

1 paper

NM_000179.3

p.G153R

c.457G>C

1 paper

NM_000179.3

p.K149T

c.446A>C

4 papers

NM_000179.3

p.G153Splc

c.457+1G>A

4 papers

NM_000179.3

p.G153Splc

c.457+1G>T

1 paper

NM_000179.3

p.K149*

c.445A>T