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.L926F

c.2776C>T

Surrounding Variants

1 paper

NM_000179.3

p.G925G

c.2775A>C

1 paper

NM_000179.3

p.G925A

c.2774G>C

7 papers

NM_000179.3

p.I927insFs

c.2779dupA

1 paper

NM_000179.3

p.I927fs

c.2779_2780fs

1 paper

NM_000179.3

p.I927insFs

c.2781dupT

1 paper

NM_000179.3

p.I927fs

c.2779_2780fs

1 paper

NM_000179.3

p.G925R

c.2773G>C

1 paper

NM_000179.3

p.G925fs

c.2773_2774fs

1 paper

NM_000179.3

p.G925*

c.2773G>T

4 papers

NM_000179.3

p.I927T

c.2780T>C

1 paper

NM_000179.3

p.I927insFs

c.2780_2781insA

1 paper

NM_000179.3

p.T924I

c.2771C>T