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.P269A

c.805C>G

Surrounding Variants

1 paper

NM_016525.5

p.F268S

c.803T>C

1 paper

NM_016525.5

p.I263M

c.789C>G

1 paper

NM_016525.5

p.S261N

c.782G>A

1 paper

NM_016525.5

p.N277S

c.830A>G

1 paper

NM_016525.5

p.K251E

c.751A>G

1 paper

NM_016525.5

p.L248P

c.743T>C

5 papers

NM_016525.5

p.S247_L248ins8

c.739_743ins24

1 paper

NM_016525.5

p.I235R

c.704T>G

1 paper

NM_016525.5

p.D224H

c.670G>C

1 paper

NM_016525.5

p.L223delFs

c.668_669delTA

1 paper

NM_016525.5

p.R220_A221delFs

c.660_661delGG

1 paper

NM_016525.5

p.A323T

c.967G>A