Varaico: Literature-Extracted Genetic Variants

Gene:EEPD1
Variant:p.G389R

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.G389R
c.1165G>C
Surrounding Variants
1 paper
NM_030636.3
p.G389R
c.1165G>A
1 paper
NM_030636.3
p.K392_V393Splc
c.1176+7G>A
1 paper
NM_030636.3
p.G377W
c.1129G>T
1 paper
NM_030636.3
p.N376N
c.1128C>T
1 paper
NM_030636.3
p.G368R
c.1102G>C
1 paper
NM_030636.3
p.A358A
c.1074G>A
1 paper
NM_030636.3
p.A358S
c.1072G>T
1 paper
NM_030636.3
p.A352E
c.1055C>A
1 paper
NM_030636.3
p.A406S
c.1216G>T
2 papers
NM_030636.3
p.E414D
c.1242G>C
2 papers
NM_030636.3
p.E414D
c.1242G>T
1 paper
NM_030636.3
p.L437L
c.1311G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."