Varaico: Literature-Extracted Genetic Variants

Gene:UBAP1
Variant:p.F104delFs

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
4 papers
NM_016525.5
p.F104delFs
c.312delC
Surrounding Variants
1 paper
NM_016525.5
p.S105fs
c.313_314fs
3 papers
NM_016525.5
p.S105fs
c.313_314fs
1 paper
NM_001171202.1
p.K142delFs
c.425_426delAG
3 papers
NM_016525.5
p.H108_S109delFs
c.324_325delCA
1 paper
NM_016525.5
p.H108fs
c.322_323fs
3 papers
NM_016525.5
p.H108fs
c.322_323fs
1 paper
NM_016525.5
p.D99H
c.295G>C
2 papers
NM_016525.5
p.D99fs
c.295_296fs
3 papers
NM_016525.5
p.D99fs
c.295_296fs
1 paper
NM_001171202.1
p.T146insFs
c.436_437ins4
3 papers
NM_016525.5
p.D99insFs
c.295dupG
1 paper
NM_016525.5
p.E97fs
c.289_290fs
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