Varaico: Literature-Extracted Genetic Variants

Gene:FAM8A1

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
1–12 of 56 variants
8 papers
NM_016255.3
p.R339*
c.1015C>T
5 papers
NM_016255.3
p.E240*
c.718G>T
5 papers
NM_016255.3
p.I400T
c.1199T>C
4 papers
NM_016255.3
p.P244L
c.731C>T
4 papers
NM_016255.3
p.R395*
c.1183C>T
3 papers
NM_016255.3
p.H132R
c.395A>G
3 papers
NM_016255.3
p.Q149R
c.446A>G
3 papers
NM_016255.3
p.S153L
c.458C>T
3 papers
NM_016255.3
p.A252V
c.755C>T
3 papers
NM_016255.3
p.V268I
c.802G>A
2 papers
NM_016255.3
p.E94K
c.280G>A
2 papers
NM_016255.3
p.G134S
c.400G>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."