Varaico: Literature-Extracted Genetic Variants

Gene:FEM1A
Variant:p.L319V

FEM1A

30 papers

Pfam Domains

Ank_2aa 7–113UCSCAnkyrin repeats (3 copies)
Ank_2aa 87–180UCSCAnkyrin repeats (3 copies)
Ank_2aa 178–245UCSCAnkyrin repeats (3 copies)
Ank_2aa 513–611UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

fem-1 homolog A

HGNC Previous Name

fem-1 homolog a (C. elegans)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018708.3
p.L319V
c.955C>G
Surrounding Variants
1 paper
NM_018708.3
p.R352G
c.1054A>G
1 paper
NM_018708.3
p.E358K
c.1072G>A
1 paper
NM_018708.3
p.C273W
c.819C>G
1 paper
NM_018708.3
p.G263ins1
c.788_789insTCT
1 paper
NM_018708.3
p.A245T
c.733G>A
1 paper
NM_018708.3
p.A401T
c.1201G>A
1 paper
NM_018708.3
p.F406F
c.1218C>T
1 paper
NM_018708.3
p.R408_I410del0
c.1222_1230del9
1 paper
NM_018708.3
p.D418D
c.1254C>T
1 paper
NM_018708.3
p.S428T
c.1283G>C
1 paper
NM_018708.3
p.R208P
c.623G>C
2 papers
NM_018708.3
p.Q200*
c.598C>T
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