Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD34A
Variant:p.E229*

ANKRD34A

32 papers

Pfam Domains

Ank_2aa 2–74UCSCAnkyrin repeats (3 copies)
Ank_2aa 52–141UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 34A

HGNC Previous Symbol

ANKRD34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039888.4
p.E229*
c.685G>T
Surrounding Variants
1 paper
NM_001039888.4
p.P239R
c.716C>G
1 paper
NM_001039888.4
p.R244G
c.730A>G
1 paper
NM_001039888.4
p.R244M
c.731G>T
1 paper
NM_001039888.4
p.A254V
c.761C>T
1 paper
NM_001039888.4
p.R197S
c.589C>A
1 paper
NM_001039888.4
p.S183T
c.547T>A
1 paper
NM_001039888.4
p.P176S
c.526C>T
1 paper
NM_001039888.4
p.P171R
c.512C>G
1 paper
NM_001039888.4
p.E293*
c.877G>T
1 paper
NM_001039888.4
p.A302A
c.906G>A
1 paper
NM_001039888.4
p.S149L
c.446C>T
1 paper
NM_001039888.4
p.R335H
c.1004G>A
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