Varaico: Literature-Extracted Genetic Variants

Gene:FAM8A1
Variant:p.E240*

FAM8A1

59 papers

Pfam Domains

RDDaa 243–403UCSCRDD family

Gene Aliases

HGNC Name

family with sequence similarity 8 member A1

HGNC Alias Symbol

AHCP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_016255.3
p.E240*
c.718G>T
Surrounding Variants
4 papers
NM_016255.3
p.P244L
c.731C>T
1 paper
NM_016255.3
p.F250L
c.750T>A
3 papers
NM_016255.3
p.A252V
c.755C>T
1 paper
NM_016255.3
p.E253Q
c.757G>C
1 paper
NM_016255.3
p.L260R
c.779T>G
1 paper
NM_016255.3
p.I263V
c.787A>G
3 papers
NM_016255.3
p.V268I
c.802G>A
2 papers
NM_016255.3
p.G234R
c.700G>A
2 papers
NM_016255.3
p.G234R
c.700G>C
1 paper
NM_016255.3
p.A224delins
c.670_671delinsAT
1 paper
NM_016255.3
p.G222E
c.665G>A
1 paper
NM_016255.3
p.A215V
c.644C>T
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