Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.N21H

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
3 papers
NM_032545.4
p.N21H
c.61A>C
Surrounding Variants
1 paper
NM_032545.4
p.N21N
c.63T>C
1 paper
NM_032545.4
p.S25Splc
c.73+7A>G
1 paper
NM_032545.4
p.L10L
c.30G>C
1 paper
NM_032545.4
p.Y26_Q27insFs
c.78_79insTT
1 paper
NM_032545.4
p.K30fs
c.88_89fs
1 paper
NM_032545.4
p.K30_G33delFs
c.88_98del11
2 papers
NM_032545.4
p.G34C
c.100G>T
5 papers
NM_032545.4
p.R47Q
c.140G>A
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.S64insFs
c.192dupC
1 paper
NM_032545.4
p.A65T
c.193G>A
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