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

4 papers

NM_016525.5

p.L121insFs

c.361dupC

Surrounding Variants

2 papers

NM_016525.5

p.L121fs

c.361_362fs

4 papers

NM_016525.5

p.L121fs

c.361_362fs

3 papers

NM_016525.5

p.L124insFs

c.371dupT

2 papers

NM_016525.5

p.L124fs

c.370_371fs

1 paper

NM_016525.5

p.L124fs

c.370_371fs

1 paper

NM_016525.5

p.P116L

c.347C>T

5 papers

NM_016525.5

p.Q125*

c.373C>T

4 papers

NM_016525.5

p.S128delFs

c.382delA

2 papers

NM_016525.5

p.S128fs

c.382_383fs

2 papers

NM_016525.5

p.S128C

c.382A>T

3 papers

NM_016525.5

p.S128fs

c.382_383fs

1 paper

NM_001171202.1

p.T146insFs

c.436_437ins4