Varaico: Literature-Extracted Genetic Variants

Gene:GABPB2
Variant:p.G399*

GABPB2

50 papers

Pfam Domains

Ank_2aa 10–101UCSCAnkyrin repeats (3 copies)
Ank_2aa 97–171UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

GA binding protein transcription factor subunit beta 2

HGNC Alias Symbol

MGC29891

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144618.3
p.G399*
c.1195G>T
Surrounding Variants
1 paper
NM_144618.3
p.G419W
c.1255G>T
1 paper
NM_144618.3
p.E425_T426delFs
c.1273_1276del4
1 paper
NM_144618.3
p.H373Q
c.1119C>A
1 paper
NM_144618.3
p.H373Q
c.1119C>G
1 paper
NM_144618.3
p.E425fs
c.1273_1274fs
1 paper
NM_144618.3
p.Q369Q
c.1107G>A
1 paper
NM_144618.3
p.A368G
c.1103C>G
1 paper
NM_144618.3
p.E363*
c.1087G>T
1 paper
NM_144618.3
p.L361L
c.1083C>G
1 paper
NM_144618.3
p.S448F
c.1343C>T
1 paper
NM_144618.3
p.E318K
c.952G>A
2 papers
NM_144618.3
p.K315Q
c.943A>C
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