Varaico: Literature-Extracted Genetic Variants

Gene:ELAC1
Variant:p.V342A

ELAC1

73 papers

Pfam Domains

Anti-Pycsar_Apyc1aa 3–114UCSCAnti-Pycsar protein Apyc1

Gene Aliases

HGNC Name

elaC ribonuclease Z 1

HGNC Alias Symbol

D29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018696.3
p.V342A
c.1025T>C
Surrounding Variants
1 paper
NM_018696.3
p.D344Y
c.1030G>T
1 paper
NM_018696.3
p.E340K
c.1018G>A
1 paper
NM_018696.3
p.K337R
c.1010A>G
1 paper
NM_018696.3
p.G327G
c.981A>T
1 paper
NM_018696.3
p.Q316*
c.946C>T
1 paper
NM_018696.3
p.V310G
c.929T>G
3 papers
NM_018696.3
p.D279_D280insC
c.835_839ins3
1 paper
NM_018696.3
p.I248I
c.744C>T
1 paper
NM_018696.3
p.K247I
c.740A>T
1 paper
NM_018696.3
p.G245fs
c.733_734fs
1 paper
NM_018696.3
p.V244F
c.730G>T
1 paper
NM_018696.3
p.P211L
c.632C>T
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