Varaico: Literature-Extracted Genetic Variants

FEM1B

41 papers

RefSeq Summary

This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in...

Pfam Domains

Ank_2aa 8–118UCSCAnkyrin repeats (3 copies)

Ank_2aa 115–184UCSCAnkyrin repeats (3 copies)

Ank_2aa 158–248UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

fem-1 homolog B

HGNC Previous Names

FEM-1 (C. elegans) homolog b; fem-1 homolog b (C. elegans)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

4 papers

NM_015322.5

p.R126Q

c.377G>A

2 papers

NM_015322.5

p.D356A

c.1067A>C

2 papers

NM_015322.5

p.P576L

c.1727C>T

1 paper

NM_015322.5

p.V17E

c.50T>A

1 paper

NM_015322.5

p.I51I

c.153C>T

1 paper

NM_015322.5

p.D82A

c.245A>C

1 paper

NM_015322.5

p.G88G

c.264T>C

1 paper

NM_015322.5

p.L106insFs

c.316_317insC

1 paper

NM_015322.5

p.S122A

c.364T>G

1 paper

NM_015322.5

p.K164R

c.491A>G

1 paper

NM_015322.5

p.H166L

c.497A>T

1 paper

NM_015322.5

p.R177C

c.529C>T