Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.R47Q

CFC1

60 papers

RefSeq Summary

This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a...

Pfam Domains

CFCaa 123–157UCSCCripto_Frl-1_Cryptic (CFC)

Gene Aliases

HGNC Name

cryptic, EGF-CFC family member 1

HGNC Previous Symbol

HTX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_032545.4
p.R47Q
c.140G>A
Surrounding Variants
2 papers
NM_032545.4
p.G34C
c.100G>T
1 paper
NM_032545.4
p.K30_G33delFs
c.88_98del11
1 paper
NM_032545.4
p.G63A
c.188G>C
1 paper
NM_032545.4
p.S64delFs
c.191delC
1 paper
NM_032545.4
p.K30fs
c.88_89fs
1 paper
NM_032545.4
p.S64insFs
c.192dupC
1 paper
NM_032545.4
p.A65T
c.193G>A
1 paper
NM_032545.4
p.G67V
c.200G>T
1 paper
NM_032545.4
p.Y26_Q27insFs
c.78_79insTT
1 paper
NM_032545.4
p.E66_G69ins1
c.196_207dup12
1 paper
NM_032545.4
p.P75L
c.224C>T
2 papers
NM_032545.4
p.P75P
c.225C>A
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