Varaico: Literature-Extracted Genetic Variants

Gene:PNO1
Variant:p.A44E

PNO1

510 papers

Pfam Domains

KH_PNO1_2ndaa 162–246UCSCEukaryotic type KH-domain (KH-domain type I)

Gene Aliases

HGNC Name

partner of NOB1 homolog

HGNC Previous Symbol

KHRBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020143.4
p.A44E
c.131C>A
Surrounding Variants
1 paper
NM_020143.4
p.G45_R46Fs
c.134_136delinsCCFs
1 paper
NM_020143.4
p.G45_R46delFs
c.135_136delCC
1 paper
NM_020143.4
p.G42insFs
c.124_125insT
1 paper
NM_020143.4
p.G41G
c.123C>A
1 paper
NM_020143.4
p.M47I
c.141G>A
1 paper
NM_020143.4
p.E40E
c.120G>A
1 paper
NM_020143.4
p.D48N
c.142G>A
1 paper
NM_020143.4
p.D48V
c.143A>T
1 paper
NM_020143.4
p.E40K
c.118G>A
1 paper
NM_020143.4
p.G39A
c.116G>C
2 papers
NM_020143.4
p.E50K
c.148G>A
2 papers
NM_020143.4
p.E50A
c.149A>C
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