Varaico: Literature-Extracted Genetic Variants

Gene:R3HDM2
Variant:p.L394_G395del2

R3HDM2

42 papers

Pfam Domains

R3Haa 170–228UCSCR3H domain
SUZaa 250–303UCSCSUZ domain

Gene Aliases

HGNC Name

R3H domain containing 2

HGNC Alias Symbol

KIAA1002

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001394031.1
p.L394_G395del2
c.1180_1184del6
Surrounding Variants
1 paper
NM_001394031.1
p.L394_G395del1
c.1182_1184delCCT
3 papers
NM_001394031.1
p.L412_L413del1
c.1236_1238delAGA
2 papers
NM_001394031.1
p.L412_L413del2
c.1234_1238del6
1 paper
NM_001394031.1
p.P432S
c.1294C>T
1 paper
NM_001394031.1
p.T434_P435del1
c.1302_1304delGGC
1 paper
NM_001394031.1
p.T434_P435del2
c.1300_1304del6
1 paper
NM_014925.5
p.P426S
c.1276C>T
1 paper
NM_001394031.1
p.D346_M354del9
c.1036_1061del27
1 paper
NM_001394031.1
p.D311Y
c.931G>T
1 paper
NM_001394031.1
p.G307*
c.919G>T
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