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.K266_P267delFs

c.798_799delGC

Surrounding Variants

2 papers

NM_000179.3

p.P267A

c.799C>G

1 paper

NM_000179.3

p.P267S

c.799C>T

1 paper

NM_000179.3

p.P267fs

c.799_800fs

1 paper

NM_000179.3

p.D268_T269delFs

c.802_805del4

1 paper

NM_000179.3

p.F265F

c.795T>C

1 paper

NM_000179.3

p.P267Q

c.800C>A

2 papers

NM_000179.3

p.P267L

c.800C>T

3 papers

NM_000179.3

p.F265C

c.794T>G

1 paper

NM_000179.3

p.P267P

c.801A>C

1 paper

NM_000179.3

p.D268H

c.802G>C

1 paper

NM_000179.3

p.D268fs

c.802_803fs

1 paper

NM_000179.3

p.D268insFs

c.802_803insT