Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_016525.5

p.I174V

c.520A>G

Surrounding Variants

1 paper

NM_016525.5

p.E176K

c.526G>A

1 paper

NM_016525.5

p.E176insFs

c.527dupA

5 papers

NM_016525.5

p.E176*

c.526G>T

1 paper

NM_016525.5

p.E176E

c.528G>A

2 papers

NM_016525.5

p.K177insFs

c.529dupA

4 papers

NM_016525.5

p.L171*

c.512T>A

NM_001171201.1

p.L235*

c.704T>A

4 papers

NM_016525.5

p.L171*

c.512T>G

NM_001171201.1

p.L235*

c.704T>G

1 paper

NM_016525.5

p.K172_T173insFs

c.516_517dupAA

1 paper

NM_016525.5

p.K172_T173delFs

c.516_517delAA

1 paper

NM_016525.5

p.L169M

c.505C>A

5 papers

NM_016525.5

p.E179*

c.535G>T

1 paper

NM_016525.5

p.E163insFs

c.487dupG