Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.G94C

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.G94C
c.280G>T
Surrounding Variants
1 paper
NM_032545.4
p.R92S
c.276G>T
1 paper
NM_032545.4
p.C97S
c.289T>A
1 paper
NM_032545.4
p.S85_R87delFs
c.254_261del8
1 paper
NM_032545.4
p.P88_V98del11
c.262_293del33
1 paper
NM_032545.4
p.A84_R87del0
c.250_261del12
1 paper
NM_032545.4
p.L99_G100Fs
c.297_298delinsGFs
10 papers
NM_032545.4
p.R112C
c.334C>T
1 paper
NM_032545.4
p.D117G
c.350A>G
1 paper
NM_032545.4
p.S121Splc
c.362+2T>C
1 paper
NM_032545.4
p.G129E
c.386G>A
9 papers
NM_032545.4
p.A145T
c.433G>A
1 paper
NM_032545.4
p.G83Splc
c.247+11G>T
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