Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.K422_E423delFs

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.K422_E423delFs
c.1266_1269del4
Surrounding Variants
1 paper
NM_080632.3
p.D429fs
c.1285_1286fs
1 paper
NM_080632.3
p.D429delFs
c.1285_1286delTC
7 papers
NM_080632.3
p.R430*
c.1288C>T
1 paper
NM_080632.3
p.N433K
c.1299C>G
1 paper
NM_080632.3
p.N433K
c.1299C>A
2 papers
NM_080632.3
p.S412L
c.1235C>T
1 paper
NM_080632.3
p.A407T
c.1219G>A
1 paper
NM_080632.3
p.R401W
c.1201C>T
1 paper
NM_080632.3
p.E390*
c.1168G>T
3 papers
NM_080632.3
p.R388_K389delFs
c.1164_1167del4
1 paper
NM_080632.3
p.E390fs
c.1168_1169fs
1 paper
NM_080632.3
p.R388fs
c.1162_1163fs
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