Varaico: Literature-Extracted Genetic Variants

Gene:CDV3
Variant:p.A48T

CDV3

42 papers

Pfam Domains

CDV3aa 1–101UCSCCarnitine deficiency-associated protein 3

Gene Aliases

HGNC Name

CDV3 homolog

HGNC Alias Symbol

H41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017548.5
p.A48T
c.142G>A
Surrounding Variants
1 paper
NM_017548.5
p.A48V
c.143C>T
1 paper
NM_017548.5
p.G50D
c.149G>A
1 paper
NM_017548.5
p.P58P
c.174G>T
1 paper
NM_017548.5
p.G36R
c.106G>C
1 paper
NM_017548.5
p.A64_A66del3
c.190_197del9
1 paper
NM_017548.5
p.A68V
c.203C>T
1 paper
NM_017548.5
p.R27W
c.79C>T
1 paper
NM_017548.5
p.A74A
c.222C>T
1 paper
NM_017548.5
p.K20Q
c.58A>C
1 paper
NM_017548.5
p.K18R
c.53A>G
1 paper
NM_017548.5
p.K18Q
c.52A>C
1 paper
NM_017548.5
p.K22del1
c.64_66delAAG
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