Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.D32A

UPF3B

90 papers

RefSeq Summary

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to ye...

Pfam Domains

Smg4_UPF3aa 48–209UCSCSmg-4/UPF3 family

Gene Aliases

HGNC Name

UPF3B regulator of nonsense mediated mRNA decay

HGNC Previous Symbols

MRX62; UPF3BP1; UPF3BP2; UPF3BP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080632.3
p.D32A
c.95A>C
Surrounding Variants
3 papers
NM_080632.3
p.Q40*
c.118C>T
1 paper
NM_080632.3
p.A20T
c.58G>A
1 paper
NM_080632.3
p.T18P
c.52A>C
3 papers
NM_080632.3
p.K52E
c.154A>G
1 paper
NM_080632.3
p.K10delFs
c.29delT
1 paper
NM_080632.3
p.H7L
c.20A>T
1 paper
NM_080632.3
p.E6insFs
c.18dupG
1 paper
NM_080632.3
p.H7ins5
c.19_20ins15
1 paper
NM_080632.3
p.H7insFs
c.19_20ins20
1 paper
NM_080632.3
p.E6delFs
c.16delC
1 paper
NM_080632.3
p.M1insFs
c.1dupA
1 paper
NM_080632.3
p.V54Fs
c.160delinsACFs
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