Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.E230fs

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.E230fs
c.688_689fs
Surrounding Variants
1 paper
NM_080632.3
p.Q228_R229delFs
c.684_687del4
3 papers
NM_080632.3
p.Q228_R229delFs
c.684_685delTT
2 papers
NM_080632.3
p.E230fs
c.688_689fs
2 papers
NM_080632.3
p.R229fs
c.685_686fs
3 papers
NM_080632.3
p.Q228fs
c.682_683fs
1 paper
NM_080632.3
p.R233fs
c.697_698fs
1 paper
NM_080632.3
p.E232del1
c.694_695delCTC
4 papers
NM_080632.3
p.R225_K226delFs
c.674_677del4
4 papers
NM_080632.3
p.R233fs
c.697_698fs
3 papers
NM_080632.3
p.R233delFs
c.697_698delCT
5 papers
NM_080632.3
p.R225fs
c.673_674fs
2 papers
NM_080632.3
p.R225fs
c.673_674fs
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