Varaico: Literature-Extracted Genetic Variants

Gene:POU2AF1
Variant:p.A49_V50Splc

POU2AF1

63 papers

Pfam Domains

PD-C2-AF1aa 7–255UCSCPOU domain, class 2, associating factor 1

Gene Aliases

HGNC Name

POU class 2 homeobox associating factor 1

HGNC Alias Symbols

OBF1; BOB1; OCA-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006235.3
p.A49_V50Splc
c.148-9C>A
Surrounding Variants
1 paper
NM_006235.3
p.G64S
c.190G>A
1 paper
NM_006235.3
p.S66F
c.197C>T
1 paper
NM_006235.3
p.S75T
c.223T>A
1 paper
NM_006235.3
p.A76V
c.227C>T
1 paper
NM_006235.3
p.E79fs
c.235_236fs
1 paper
NM_006235.3
p.L88H
c.263T>A
1 paper
NM_006235.3
p.P93L
c.278C>T
1 paper
NM_006235.3
p.W102R
c.304T>C
1 paper
NM_006235.3
p.W102R
c.304T>A
1 paper
NM_006235.3
p.P104A
c.310C>G
1 paper
NM_006235.3
p.P104L
c.311C>T
1 paper
NM_006235.3
p.T106I
c.317C>T
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