Varaico: Literature-Extracted Genetic Variants

Gene:EEPD1
Variant:p.R172H

EEPD1

47 papers

Pfam Domains

HHH_3aa 35–99UCSCHelix-hairpin-helix motif
HHH_3aa 134–196UCSCHelix-hairpin-helix motif
Exo_endo_phosaa 264–512UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

endonuclease/exonuclease/phosphatase family domain containing 1

HGNC Alias Symbol

KIAA1706

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030636.3
p.R172H
c.515G>A
Surrounding Variants
1 paper
NM_030636.3
p.V174I
c.520G>A
2 papers
NM_030636.3
p.R165H
c.494G>A
1 paper
NM_030636.3
p.D181A
c.542A>C
1 paper
NM_030636.3
p.S160R
c.480C>A
1 paper
NM_030636.3
p.S160R
c.480C>G
1 paper
NM_030636.3
p.S160R
c.478A>C
1 paper
NM_030636.3
p.A186S
c.556G>T
1 paper
NM_030636.3
p.R190S
c.570G>C
1 paper
NM_030636.3
p.R190S
c.570G>T
1 paper
NM_030636.3
p.M148L
c.442A>C
1 paper
NM_030636.3
p.M148L
c.442A>T
1 paper
NM_030636.3
p.F196F
c.588T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."