Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.E66_G69ins1

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
1 paper
NM_032545.4
p.E66_G69ins1
c.196_207dup12
Surrounding Variants
1 paper
NM_032545.4
p.G67V
c.200G>T
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.P75L
c.224C>T
1 paper
NM_032545.4
p.S64delFs
c.191delC
2 papers
NM_032545.4
p.P75P
c.225C>A
1 paper
NM_032545.4
p.G63A
c.188G>C
1 paper
NM_032545.4
p.S77A
c.229T>G
11 papers
NM_032545.4
p.R78W
c.232C>T
1 paper
NM_032545.4
p.G81E
c.242G>A
1 paper
NM_032545.4
p.E82Q
c.244G>C
1 paper
NM_032545.4
p.E82insFs
c.245_246insTT
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