Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.H188Y

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.H188Y
c.562C>T
Surrounding Variants
7 papers
NM_032545.4
p.R189C
c.565C>T
1 paper
NM_032545.4
p.A195E
c.584C>A
2 papers
NM_032545.4
p.P196P
c.588C>A
1 paper
NM_032545.4
p.R200L
c.599G>T
1 paper
NM_032545.4
p.A175fs
c.523_524fs
1 paper
NM_032545.4
p.G174del1
c.520_521delGCC
1 paper
NM_032545.4
p.A175T
c.523G>A
4 papers
NM_032545.4
p.G174delFs
c.522delG
2 papers
NM_032545.4
p.A175fs
c.523_524fs
1 paper
NM_032545.4
p.G174fs
c.520_521fs
1 paper
NM_032545.4
p.S201S
c.603C>A
1 paper
NM_032545.4
p.L202L
c.606G>C
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