Varaico: Literature-Extracted Genetic Variants

Gene:FHDC1
Variant:p.L717H

FHDC1

81 papers

Pfam Domains

FH2aa 88–457UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

FH2 domain containing 1

HGNC Alias Symbols

KIAA1727; INF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001371116.1
p.L717H
c.2150T>A
Surrounding Variants
1 paper
NM_001371116.1
p.S723del1
c.2167_2169delAGC
1 paper
NM_001371116.1
p.R729T
c.2186G>C
1 paper
NM_001371116.1
p.A738A
c.2214G>A
2 papers
NM_001371116.1
p.G758C
c.2272G>T
1 paper
NM_001371116.1
p.C779W
c.2337C>G
3 papers
NM_001371116.1
p.R639C
c.1915C>T
1 paper
NM_001371116.1
p.H620N
c.1858C>A
1 paper
NM_001371116.1
p.S821Y
c.2462C>A
1 paper
NM_001371116.1
p.G607V
c.1820G>T
1 paper
NM_001371116.1
p.D839Y
c.2515G>T
1 paper
NM_001371116.1
p.D858Y
c.2572G>T
1 paper
NM_001371116.1
p.R573W
c.1717C>T
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