Varaico: Literature-Extracted Genetic Variants

Gene:C2CD4D

C2CD4D

29 papers

Pfam Domains

C2aa 232–338UCSCC2 domain

Gene Aliases

HGNC Name

C2 calcium dependent domain containing 4D

HGNC Alias Symbol

FAM148D

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
1 paper
NM_001394591.1
p.F52del1
c.154_155delGAA
1 paper
NM_001394591.1
p.S81Fs
c.241_242delinsACAGGTCGCGGGGFs
1 paper
NM_001394591.1
p.S81fs
c.241_242fs
1 paper
NM_001394591.1
p.A86delFs
c.257delG
1 paper
NM_001394591.1
p.P110delFs
c.329delG
1 paper
NM_001394591.1
p.P154Q
c.461C>A
1 paper
NM_001394591.1
p.G157C
c.469G>T
1 paper
NM_001394591.1
p.L169delFs
c.505_506delAG
1 paper
NM_001394591.1
p.A174insFs
c.521_522insCT
1 paper
NM_001394591.1
p.S175R
c.523A>C
1 paper
NM_001394591.1
p.S175R
c.525C>G
1 paper
NM_001394591.1
p.S175R
c.525C>A
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