Varaico: Literature-Extracted Genetic Variants

Gene:FEM1C
Variant:p.I534I

FEM1C

29 papers

Pfam Domains

Ank_2aa 7–113UCSCAnkyrin repeats (3 copies)
Ank_2aa 87–179UCSCAnkyrin repeats (3 copies)
Ank_2aa 177–244UCSCAnkyrin repeats (3 copies)
Ank_2aa 465–558UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

fem-1 homolog C

HGNC Alias Symbols

KIAA1785; EUROIMAGE686608; EUROIMAGE783647

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020177.3
p.I534I
c.1602C>T
Surrounding Variants
1 paper
NM_020177.3
p.L532L
c.1596G>A
2 papers
NM_020177.3
p.L568L
c.1702C>T
1 paper
NM_020177.3
p.Q467Q
c.1401G>A
3 papers
NM_020177.3
p.D462N
c.1384G>A
1 paper
NM_020177.3
p.L448*
c.1343T>G
1 paper
NM_020177.3
p.L448*
c.1343T>A
1 paper
NM_020177.3
p.H447Y
c.1339C>T
1 paper
NM_020177.3
p.N439S
c.1316A>G
4 papers
NM_020177.3
p.D434N
c.1300G>A
1 paper
NM_020177.3
p.L401L
c.1201C>T
1 paper
NM_020177.3
p.D396D
c.1188T>C
1 paper
NM_020177.3
p.D396Y
c.1186G>T
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