Varaico: Literature-Extracted Genetic Variants

Gene:R3HDM1
Variant:p.I310L

R3HDM1

51 papers

Pfam Domains

R3Haa 169–227UCSCR3H domain
R3Haa 169–227UCSCR3H domain
SUZaa 249–302UCSCSUZ domain
SUZaa 249–302UCSCSUZ domain

Gene Aliases

HGNC Name

R3H domain containing 1

HGNC Alias Symbol

KIAA0029

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378107.1
p.I310L
c.928A>C
Surrounding Variants
1 paper
NM_001378107.1
p.L352L
c.1056G>A
1 paper
NM_001378107.1
p.K353N
c.1059G>C
1 paper
NM_001378107.1
p.K353N
c.1059G>T
1 paper
NM_001378107.1
p.P357S
c.1069C>T
1 paper
NM_001378107.1
p.R358G
c.1072C>G
1 paper
NM_001378107.1
p.P359L
c.1076C>T
1 paper
NM_001378107.1
p.D364Y
c.1090G>T
1 paper
NM_001378107.1
p.S386*
c.1157C>A
1 paper
NM_001378107.1
p.S386*
c.1157C>G
1 paper
NM_001378107.1
p.G401S
c.1201G>A
1 paper
NM_001378107.1
p.R402G
c.1204A>G
1 paper
NM_001378107.1
p.D301_S302Splc
c.903+5G>A
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