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.M303_V304delFs

c.909_910delGG

Surrounding Variants

1 paper

NM_000179.3

p.M303fs

c.907_908fs

1 paper

NM_000179.3

p.M303insFs

c.908dupT

1 paper

NM_000179.3

p.M303L

c.907A>C

1 paper

NM_000179.3

p.M303L

c.907A>T

1 paper

NM_000179.3

p.V304delFs

c.911delT

2 papers

NM_000179.3

p.R302K

c.905G>A

3 papers

NM_000179.3

p.R302T

c.905G>C

1 paper

NM_000179.3

p.R302I

c.905G>T

1 paper

NM_000179.3

p.R302_M303delFs

c.906_907delAA

3 papers

NM_000179.3

p.V304A

c.911T>C

1 paper

NM_000179.3

p.R302fs

c.904_905fs

1 paper

NM_000179.3

p.V304V

c.912G>C