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.H367R

c.1100A>G

Surrounding Variants

1 paper

NM_000179.3

p.H367delFs

c.1101delT

1 paper

NM_000179.3

p.H367fs

c.1099_1100fs

3 papers

NM_000179.3

p.H367Y

c.1099C>T

2 papers

NM_000179.3

p.H367delFs

c.1100delA

1 paper

NM_000179.3

p.E368K

c.1102G>A

2 papers

NM_000179.3

p.E368*

c.1102G>T

1 paper

NM_000179.3

p.Y366H

c.1096T>C

1 paper

NM_000179.3

p.T369fs

c.1105_1106fs

1 paper

NM_000179.3

p.T369A

c.1105A>G

1 paper

NM_000179.3

p.T369S

c.1105A>T

6 papers

NM_000179.3

p.W365*

c.1095G>A

1 paper

NM_000179.3

p.T369S

c.1106C>G