Varaico: Literature-Extracted Genetic Variants

Gene:EFCC1
Variant:p.D112A

EFCC1

41 papers

Pfam Domains

CCD48aa 18–599UCSCCoiled-coil domain-containing protein 48

Gene Aliases

HGNC Name

EF-hand and coiled-coil domain containing 1

HGNC Previous Symbols

C3orf73; CCDC48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001377500.1
p.D112A
c.335A>C
Surrounding Variants
1 paper
NM_001377500.1
p.E116_A118del0
c.346_354del9
1 paper
NM_001377500.1
p.D102E
c.306C>G
1 paper
NM_001377500.1
p.D102N
c.304G>A
1 paper
NM_001377500.1
p.T125S
c.374C>G
1 paper
NM_001377500.1
p.D126N
c.376G>A
1 paper
NM_001377500.1
p.L131R
c.392T>G
1 paper
NM_001377500.1
p.L133R
c.398T>G
1 paper
NM_001377500.1
p.R134_A135del0
c.400_405del6
1 paper
NM_001377500.1
p.E136K
c.406G>A
1 paper
NM_001377500.1
p.A81G
c.242C>G
1 paper
NM_001377500.1
p.H146Y
c.436C>T
1 paper
NM_001377500.1
p.G72S
c.214G>A
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