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.Q978K

c.2932C>A

Surrounding Variants

9 papers

NM_000179.3

p.Q978*

c.2932C>T

1 paper

NM_000179.3

p.Q978delFs

c.2933delA

1 paper

NM_000179.3

p.Q978fs

c.2932_2933fs

8 papers

NM_000179.3

p.Y977*

c.2931C>A

14 papers

NM_000179.3

p.Y977*

c.2931C>G

1 paper

NM_000179.3

p.Y977C

c.2930A>G

1 paper

NM_000179.3

p.L979L

c.2935C>T

1 paper

NM_000179.3

p.Y977H

c.2929T>C

2 papers

NM_000179.3

p.Y977insFs

c.2930dupA

1 paper

NM_000179.3

p.Y977fs

c.2929_2930fs

2 papers

NM_000179.3

p.Y977fs

c.2929_2930fs

1 paper

NM_000179.3

p.R976R

c.2928T>C