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.P673A

c.2017C>G

Surrounding Variants

1 paper

NM_000179.3

p.P673T

c.2017C>A

1 paper

NM_000179.3

p.P673L

c.2018C>T

2 papers

NM_000179.3

p.G674R

c.2020G>A

2 papers

NM_000179.3

p.G674R

c.2020G>C

1 paper

NM_000179.3

p.G674fs

c.2020_2021fs

2 papers

NM_000179.3

p.G674_E675insTG

c.2020_2024ins6

1 paper

NM_000179.3

p.G674fs

c.2020_2021fs

1 paper

NM_000179.3

p.G674E

c.2021G>A

2 papers

NM_000179.3

p.G674A

c.2021G>C

2 papers

NM_000179.3

p.L671*

c.2012T>A

1 paper

NM_000179.3

p.L671_E675del0

c.2013_2024del12

1 paper

NM_000179.3

p.L671fs

c.2011_2012fs