Varaico: Literature-Extracted Genetic Variants

Gene:RMND5B
Variant:p.L243R

RMND5B

24 papers

Pfam Domains

CTLHaa 155–299UCSCCTLH/CRA C-terminal to LisH motif domain
zf-RING_UBOXaa 338–377UCSCRING-type zinc-finger

Gene Aliases

HGNC Name

required for meiotic nuclear division 5 homolog B

HGNC Alias Symbols

FLJ22318; GID2; GID2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022762.5
p.L243R
c.728T>G
Surrounding Variants
3 papers
NM_022762.5
p.S285N
c.854G>A
1 paper
NM_022762.5
p.S287Splc
c.861-5T>G
1 paper
NM_022762.5
p.V293E
c.878T>A
1 paper
NM_022762.5
p.P296P
c.888T>C
1 paper
NM_022762.5
p.R308W
c.922C>T
1 paper
NM_022762.5
p.G312R
c.934G>A
1 paper
NM_022762.5
p.G312R
c.934G>C
1 paper
NM_022762.5
p.L326R
c.977T>G
1 paper
NM_022762.5
p.I355L
c.1063A>C
1 paper
NM_022762.5
p.R362Q
c.1085G>A
1 paper
NM_022762.5
p.K373Splc
c.1118+7T>C
1 paper
NM_022762.5
p.P377S
c.1129C>T
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