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.F1333_R1334insFs

c.3999_4000ins19

Surrounding Variants

2 papers

NM_000179.3

p.F1333L

c.3999T>A

2 papers

NM_000179.3

p.F1333L

c.3999T>G

10 papers

NM_000179.3

p.R1334W

c.4000C>T

1 paper

NM_000179.3

p.R1334delFs

c.4001delG

4 papers

NM_000179.3

p.R1334fs

c.4000_4001fs

45 papers

NM_000179.3

p.R1334Q

c.4001G>A

4 papers

NM_000179.3

p.R1334P

c.4001G>C

2 papers

NM_000179.3

p.R1334L

c.4001G>T

2 papers

NM_000179.3

p.F1333L

c.3997T>C

1 paper

NM_000179.3

p.F1333insFs

c.3999dupT

1 paper

NM_000179.3

p.R1334Splc

c.4001+1G>A

5 papers

NM_000179.3

p.R1334Splc

c.4001+1G>C