Varaico: Literature-Extracted Genetic Variants

Gene:EFCC1
Variant:p.M12T

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.M12T
c.35T>C
Surrounding Variants
1 paper
NM_001377500.1
p.G11D
c.32G>A
1 paper
NM_001377500.1
p.D18N
c.52G>A
2 papers
NM_001377500.1
p.T6A
c.16A>G
1 paper
NM_001377500.1
p.V4F
c.10G>T
1 paper
NM_001377500.1
p.E2K
c.4G>A
1 paper
NM_001377500.1
p.R26R
c.78C>A
1 paper
NM_001377500.1
p.V49M
c.145G>A
1 paper
NM_001377500.1
p.G72S
c.214G>A
1 paper
NM_001377500.1
p.A81G
c.242C>G
1 paper
NM_001377500.1
p.D102N
c.304G>A
1 paper
NM_001377500.1
p.D102E
c.306C>G
1 paper
NM_001377500.1
p.D112A
c.335A>C
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