Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.T520T

ELAC2

251 papers

RefSeq Summary

The protein encoded by this gene has a C-terminal domain with tRNA 3' processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interac...

Pfam Domains

Lactamase_B_4aa 61–120UCSCtRNase Z endonuclease
Anti-Pycsar_Apyc1aa 481–734UCSCAnti-Pycsar protein Apyc1

Gene Aliases

HGNC Name

elaC ribonuclease Z 2

HGNC Alias Symbols

FLJ10530; HPC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018127.7
p.T520T
c.1560A>G
Surrounding Variants
16 papers
NM_018127.7
p.T520I
c.1559C>T
1 paper
NM_018127.7
p.G522R
c.1564G>A
1 paper
NM_018127.7
p.E518K
c.1552G>A
1 paper
NM_018127.7
p.H527L
c.1580A>T
1 paper
NM_018127.7
p.Y528F
c.1583A>T
1 paper
NM_018127.7
p.Y528*
c.1584C>A
1 paper
NM_018127.7
p.V535F
c.1603G>T
2 papers
NM_018127.7
p.A540T
c.1618G>A
66 papers
NM_018127.7
p.A541T
c.1621G>A
NM_173717.2
p.A540T
c.1618G>A
NM_001165962.2
p.A501T
c.1501G>A
1 paper
NM_173717.2
p.V541M
c.1621G>A
14 papers
NM_018127.7
p.L547_H548insFs
c.1641_1642insG
1 paper
NM_018127.7
p.H551N
c.1651C>A
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