Varaico: Literature-Extracted Genetic Variants

Gene:F8A1

F8A1

5 papers

RefSeq Summary

This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing...

Gene Aliases

HGNC Name

coagulation factor VIII associated 1

HGNC Alias Symbol

DXS522E

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_012151.4
p.D196A
c.587A>C
1 paper
NM_012151.4
p.D264A
c.791A>C
1 paper
NM_012151.4
p.E316K
c.946G>A
1 paper
NM_012151.4
p.E316A
c.947A>C
1 paper
NM_012151.4
p.E317K
c.949G>A
1 paper
NM_012151.4
p.E317A
c.950A>C
1 paper
NM_012151.4
p.L318H
c.953T>A
1 paper
NM_012151.4
p.H330R
c.989A>G
1 paper
NM_012151.4
p.E331K
c.991G>A
1 paper
NM_012151.4
p.E331A
c.992A>C
1 paper
NM_012151.4
p.D333A
c.998A>C
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