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.S287G

c.859A>G

Surrounding Variants

1 paper

NM_000179.3

p.S287fs

c.859_860fs

1 paper

NM_000179.3

p.S287N

c.860G>A

1 paper

NM_000179.3

p.S287_E288delFs

c.861_864del4

1 paper

NM_000179.3

p.E288delFs

c.862_863delGA

3 papers

NM_000179.3

p.E286*

c.856G>T

2 papers

NM_000179.3

p.E288*

c.862G>T

1 paper

NM_000179.3

p.E288_G289delFs

c.864_865delAG

2 papers

NM_000179.3

p.E286delFs

c.856delG

1 paper

NM_000179.3

p.E286_G289del4

c.856_866del12

1 paper

NM_000179.3

p.S285N

c.854G>A

12 papers

NM_000179.3

p.S285I

c.854G>T

2 papers

NM_000179.3

p.S285fs

c.853_854fs