Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.H168H

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.H168H
c.504C>T
Surrounding Variants
1 paper
NM_032545.4
p.G169W
c.505G>T
2 papers
NM_032545.4
p.G169V
c.506G>T
1 paper
NM_032545.4
p.G169A
c.506G>C
1 paper
NM_032545.4
p.A164A
c.492C>T
1 paper
NM_032545.4
p.S171insFs
c.512_513insGC
1 paper
NM_032545.4
p.G173R
c.517G>C
1 paper
NM_032545.4
p.G173R
c.517G>A
1 paper
NM_032545.4
p.F162L
c.486C>G
1 paper
NM_032545.4
p.G174fs
c.520_521fs
1 paper
NM_032545.4
p.F162L
c.486C>A
1 paper
NM_032545.4
p.A175T
c.523G>A
4 papers
NM_032545.4
p.G174delFs
c.522delG
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