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.I696_Q698delFs

c.2087_2093del7

Surrounding Variants

1 paper

NM_000179.3

p.I696fs

c.2086_2087fs

1 paper

NM_000179.3

p.L695V

c.2083C>G

1 paper

NM_000179.3

p.L695F

c.2083C>T

1 paper

NM_000179.3

p.I696T

c.2087T>C

3 papers

NM_000179.3

p.C694*

c.2082C>A

1 paper

NM_000179.3

p.D697insFs

c.2089dupG

2 papers

NM_000179.3

p.D697delFs

c.2089delG

1 paper

NM_000179.3

p.D697fs

c.2089_2090fs

2 papers

NM_000179.3

p.C694R

c.2080T>C

6 papers

NM_000179.3

p.C694fs

c.2080_2081fs

2 papers

NM_000179.3

p.C694fs

c.2080_2081fs

1 paper

NM_000179.3

p.K693K

c.2079A>G