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.E400fs

c.1198_1199fs

Surrounding Variants

1 paper

NM_000179.3

p.E400K

c.1198G>A

2 papers

NM_000179.3

p.E400*

c.1198G>T

1 paper

NM_000179.3

p.E400_T407Fs

c.1198_1219delinsTCATCFs

2 papers

NM_000179.3

p.D401delFs

c.1201delG

1 paper

NM_000179.3

p.E400insFs

c.1198dupG

1 paper

NM_000179.3

p.P399L

c.1196C>T

2 papers

NM_000179.3

p.E400E

c.1200G>A

1 paper

NM_000179.3

p.P399S

c.1195C>T

1 paper

NM_000179.3

p.D401N

c.1201G>A

2 papers

NM_000179.3

p.D401H

c.1201G>C

1 paper

NM_000179.3

p.D401Y

c.1201G>T

2 papers

NM_000179.3

p.D401fs

c.1201_1202fs