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

1–12 of 128 variants

9 papers

NM_016525.5

p.Q142_K143delFs

c.426_427delGA

9 papers

NM_016525.5

p.K143fs

c.427_428fs

5 papers

NM_016525.5

p.I83insFs

c.247_248ins8

5 papers

NM_016525.5

p.P96_E97insFs

c.286_290dup5

5 papers

NM_016525.5

p.Q125*

c.373C>T

5 papers

NM_016525.5

p.F159delFs

c.476_477delTT

5 papers

NM_016525.5

p.E176*

c.526G>T

5 papers

NM_016525.5

p.E179*

c.535G>T

5 papers

NM_016525.5

p.S247_L248ins8

c.739_743ins24

4 papers

NM_016525.5

p.E97fs

c.289_290fs

4 papers

NM_016525.5

p.F104delFs

c.312delC

4 papers

NM_016525.5

p.L121insFs

c.361dupC