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

Selected Variant

1 paper

NM_015322.5

p.*628L

c.1883A>T

Surrounding Variants

1 paper

NM_015322.5

p.*628Q

c.1882T>C

2 papers

NM_015322.5

p.P576L

c.1727C>T

1 paper

NM_015322.5

p.F549S

c.1646T>C

1 paper

NM_015322.5

p.Y542H

c.1624T>C

1 paper

NM_015322.5

p.S508R

c.1524C>A

1 paper

NM_015322.5

p.S508R

c.1524C>G

1 paper

NM_015322.5

p.S508N

c.1523G>A

1 paper

NM_015322.5

p.S508R

c.1522A>C

1 paper

NM_015322.5

p.C465R

c.1393T>C

1 paper

NM_015322.5

p.D463E

c.1389T>A

1 paper

NM_015322.5

p.D463E

c.1389T>G

1 paper

NM_015322.5

p.L444L

c.1332C>G