Varaico: Literature-Extracted Genetic Variants

Gene:CFC1

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
1–12 of 65 variants
11 papers
NM_032545.4
p.R78W
c.232C>T
10 papers
NM_032545.4
p.R112C
c.334C>T
9 papers
NM_032545.4
p.A145T
c.433G>A
7 papers
NM_032545.4
p.R189C
c.565C>T
5 papers
NM_032545.4
p.R47Q
c.140G>A
4 papers
NM_032545.4
p.G174delFs
c.522delG
3 papers
NM_032545.4
p.N21H
c.61A>C
2 papers
NM_032545.4
p.G34C
c.100G>T
2 papers
NM_032545.4
p.P75P
c.225C>A
2 papers
NM_032545.4
p.G169V
c.506G>T
2 papers
NM_032545.4
p.A175fs
c.523_524fs
2 papers
NM_032545.4
p.P196P
c.588C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."