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.I83fs

c.247_248fs

Surrounding Variants

5 papers

NM_016525.5

p.I83insFs

c.247_248ins8

1 paper

NM_016525.5

p.I83fs

c.247_248fs

1 paper

NM_016525.5

p.I83insFs

c.248_249ins8

1 paper

NM_001171201.1

p.K146insFs

c.436_437ins4

1 paper

NM_001171202.1

p.S128fs

c.382_383fs

3 papers

NM_016525.5

p.K93delFs

c.279delG

NM_001171201.1

p.K157delFs

c.471delG

1 paper

NM_016525.5

p.S94fs

c.280_281fs

1 paper

NM_016525.5

p.S94fs

c.280_281fs

NM_001171201.1

p.S158fs

c.472_473fs

5 papers

NM_016525.5

p.P96_E97insFs

c.286_290dup5

1 paper

NM_016525.5

p.E97fs

c.289_290fs

4 papers

NM_016525.5

p.E97fs

c.289_290fs

3 papers

NM_016525.5

p.D99insFs

c.295dupG