Varaico: Literature-Extracted Genetic Variants

ANKRD31

96 papers

RefSeq Summary

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with...

Pfam Domains

Ank_2aa 492–585UCSCAnkyrin repeats (3 copies)

Ank_2aa 1159–1251UCSCAnkyrin repeats (3 copies)

RAMAaa 1679–1781UCSCRestriction Enzyme Adenine Methylase Associated

Gene Aliases

HGNC Name

ankyrin repeat domain 31

HGNC Alias Symbol

FLJ40191

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001372053.1

p.K84_M85delFs

c.252_253delTC

Surrounding Variants

1 paper

NM_001372053.1

p.I94L

c.280A>T

1 paper

NM_001372053.1

p.I66F

c.196A>T