Varaico: Literature-Extracted Genetic Variants

Gene:UBAP1
Variant:p.K143fs

UBAP1

58 papers

RefSeq Summary

This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-co...

Pfam Domains

UBA_9aa 388–430UCSCUBA-like domain
UBA2_UBAP-1aa 459–498UCSCUbiquitin-associated protein 1, UBA2 domain

Gene Aliases

HGNC Name

ubiquitin associated protein 1

HGNC Previous Name

ubiquitin associated protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_016525.5
p.K143fs
c.427_428fs
Surrounding Variants
3 papers
NM_016525.5
p.K143fs
c.427_428fs
9 papers
NM_016525.5
p.Q142_K143delFs
c.426_427delGA
2 papers
NM_016525.5
p.S146insFs
c.437dupG
2 papers
NM_016525.5
p.S146fs
c.436_437fs
4 papers
NM_016525.5
p.S146insFs
c.436_437ins4
4 papers
NM_016525.5
p.S146fs
c.436_437fs
1 paper
NM_016525.5
p.P147insFs
c.439_440ins8
1 paper
NM_016525.5
p.P147insFs
c.439_440ins8
1 paper
NM_016525.5
p.A152V
c.455C>T
3 papers
NM_016525.5
p.L156_A157delFs
c.468_469delTG
2 papers
NM_016525.5
p.S128fs
c.382_383fs
2 papers
NM_016525.5
p.S128C
c.382A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."