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

4 papers

NM_000179.3

p.L621L

c.1861C>T

Surrounding Variants

1 paper

NM_000179.3

p.L621insFs

c.1862dupT

1 paper

NM_000179.3

p.L621P

c.1862T>C

2 papers

NM_000179.3

p.L621delFs

c.1863delG

2 papers

NM_000179.3

p.G620D

c.1859G>A

1 paper

NM_000179.3

p.I622delFs

c.1864_1865delAT

2 papers

NM_000179.3

p.I622fs

c.1864_1865fs

1 paper

NM_000179.3

p.I622V

c.1864A>G

2 papers

NM_000179.3

p.G620S

c.1858G>A

4 papers

NM_000179.3

p.E619D

c.1857A>C

4 papers

NM_000179.3

p.E619D

c.1857A>T

1 paper

NM_000179.3

p.I622K

c.1865T>A

2 papers

NM_000179.3

p.I622insFs

c.1866dupA