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

2 papers

NM_000179.3

p.Y642*

c.1926T>G

Surrounding Variants

2 papers

NM_000179.3

p.Y642*

c.1926T>A

1 paper

NM_000179.3

p.Y642_F643delFs

c.1926_1927delTT

1 paper

NM_000179.3

p.Y642N

c.1924T>A

1 paper

NM_000179.3

p.F643S

c.1928T>C

1 paper

NM_000179.3

p.Y642_F643delFs

c.1924_1928del5

1 paper

NM_000179.3

p.E645delFs

c.1933delG

1 paper

NM_000179.3

p.E645_G650delFs

c.1933_1949del17

1 paper

NM_000179.3

p.E641K

c.1921G>A

1 paper

NM_000179.3

p.E641fs

c.1921_1922fs

5 papers

NM_000179.3

p.E641*

c.1921G>T

1 paper

NM_000179.3

p.E641delFs

c.1923delA

1 paper

NM_000179.3

p.R644R

c.1932G>A