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.F560S

c.1679T>C

Surrounding Variants

1 paper

NM_000179.3

p.F560Y

c.1679T>A

1 paper

NM_000179.3

p.F560C

c.1679T>G

1 paper

NM_000179.3

p.F560L

c.1680T>G

1 paper

NM_000179.3

p.F560fs

c.1678_1679fs

2 papers

NM_000179.3

p.C559C

c.1677C>T

1 paper

NM_000179.3

p.V561_D562insGA

c.1681_1685ins6

2 papers

NM_000179.3

p.C559Y

c.1676G>A

2 papers

NM_000179.3

p.C559fs

c.1675_1676fs

1 paper

NM_000179.3

p.C559del1

c.1675_1677delTGC

1 paper

NM_000179.3

p.D562V

c.1685A>T

1 paper

NM_000179.3

p.V558M

c.1672G>A

1 paper

NM_000179.3

p.V558insFs

c.1672_1673ins4