Varaico: Literature-Extracted Genetic Variants

Gene:PRDM2
Variant:p.H501_Q502ins1

PRDM2

242 papers

RefSeq Summary

This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the ...

Pfam Domains

PRDM2_PRaa 30–151UCSCPR domain zinc finger protein 2, PR domain
zf-C2H2aa 360–382UCSCZinc finger, C2H2 type
zf-C2H2aa 390–412UCSCZinc finger, C2H2 type
zf-C2H2_6aa 482–508UCSCC2H2-type zinc finger
zf-C2H2_6aa 1454–1475UCSCC2H2-type zinc finger

Gene Aliases

HGNC Name

PR/SET domain 2

HGNC Alias Symbols

RIZ; RIZ1; RIZ2; KMT8; MTB-ZF; HUMHOXY1; KMT8A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393986.1
p.H501_Q502ins1
c.1503_1504insCCA
Surrounding Variants
1 paper
NM_001393986.1
p.H501ins1
c.1502_1503insCTC
1 paper
NM_001393986.1
p.Q502ins1
c.1505_1506insACC
1 paper
NM_001393986.1
p.Q502_R503ins1
c.1506_1507insCCG
1 paper
NM_001393986.1
p.H501delins
c.1501delinsACTC
1 paper
NM_001393986.1
p.Q502_R503ins1
c.1506_1507insACT
1 paper
NM_001393986.1
p.Q502ins1
c.1504_1505insATC
1 paper
NM_001393986.1
p.Q502_R503ins1
c.1506_1507insCCC
8 papers
NM_001393986.1
p.H501ins1
c.1501_1502insCTC
1 paper
NM_001393986.1
p.Q502_R503ins1
c.1506_1507insCTT
1 paper
NM_001393986.1
p.R500_H501ins1
c.1500_1501insTCT
1 paper
NM_001393986.1
p.T496S
c.1487C>G
1 paper
NM_001393986.1
p.T496S
c.1486A>T
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