Varaico: Literature-Extracted Genetic Variants

UBA1

654 papers

RefSeq Summary

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DN...

Pfam Domains

ThiFaa 55–438UCSCThiF family

E1_FCCHaa 227–296UCSCUbiquitin-activating enzyme E1 FCCH domain

E1_4HBaa 297–366UCSCUbiquitin-activating enzyme E1 four-helix bundle

ThiFaa 451–950UCSCThiF family

UBA_E1_SCCHaa 638–884UCSCUbiquitin-activating enzyme, SCCH domain

E1_UFDaa 955–1053UCSCUbiquitin fold domain

Gene Aliases

HGNC Name

ubiquitin like modifier activating enzyme 1

HGNC Previous Symbols

A1S9T; GXP1; UBE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_003334.4

p.M41R

c.122T>G

Surrounding Variants

2 papers

NM_003334.4

p.M41K

c.122T>A

183 papers

NM_003334.4

p.M41T

c.122T>C

149 papers

NM_003334.4

p.M41L

c.121A>C

165 papers

NM_003334.4

p.M41V

c.121A>G

141 papers

NM_003334.4

p.M41L

c.121A>T

1 paper

NM_003334.4

p.G40G

c.120A>T

8 papers

NM_003334.4

p.G40A

c.119G>C

1 paper

NM_003334.4

p.K43del1

c.127_128delAAG

1 paper

NM_003334.4

p.G40R

c.118G>C

2 papers

NM_003334.4

p.N39_G40Splc

c.118-1G>A

55 papers

NM_003334.4

p.N39_G40Splc

c.118-1G>C

1 paper

NM_003334.4

p.N39_G40Splc

c.118-1G>T