Varaico: Literature-Extracted Genetic Variants

Gene:FAF2
Variant:p.V83I

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.V83I
c.247G>A
Surrounding Variants
1 paper
NM_014613.3
p.P65T
c.193C>A
1 paper
NM_014613.3
p.P63S
c.187C>T
1 paper
NM_014613.3
p.Q54delFs
c.161delA
1 paper
NM_014613.3
p.V47I
c.139G>A
1 paper
NM_014613.3
p.A46D
c.137C>A
1 paper
NM_014613.3
p.L91M
c.271C>A
1 paper
NM_014613.3
p.T109T
c.327G>A
1 paper
NM_014613.3
p.T109T
c.327G>T
1 paper
NM_014613.3
p.A117V
c.350C>T
1 paper
NM_014613.3
p.G157E
c.470G>A
1 paper
NM_014613.3
p.Q161del1
c.481_482delCAG
1 paper
NM_014613.3
p.L36F
c.108G>T
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