Varaico: Literature-Extracted Genetic Variants

Gene:FAF2
Variant:p.R241*

FAF2

51 papers

RefSeq Summary

The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apo...

Pfam Domains

UBA_8aa 11–57UCSCUBA-like domain
FAF1aa 139–217UCSCFas-associated factor 1
UBXaa 357–441UCSCUBX domain

Gene Aliases

HGNC Name

Fas associated factor family member 2

HGNC Previous Symbol

UBXD8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014613.3
p.R241*
c.721C>T
Surrounding Variants
1 paper
NM_014613.3
p.G247V
c.740G>T
1 paper
NM_014613.3
p.T229S
c.686C>G
1 paper
NM_014613.3
p.T229S
c.685A>T
1 paper
NM_014613.3
p.D256Y
c.766G>T
1 paper
NM_014613.3
p.D257G
c.770A>G
1 paper
NM_014613.3
p.Q270R
c.809A>G
1 paper
NM_014613.3
p.E282K
c.844G>A
1 paper
NM_014613.3
p.Y297S
c.890A>C
1 paper
NM_014613.3
p.Q305Q
c.915G>A
1 paper
NM_014613.3
p.E306fs
c.916_917fs
1 paper
NM_014613.3
p.E306_K307delFs
c.917_920del4
1 paper
NM_014613.3
p.D180G
c.539A>G
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