Varaico: Literature-Extracted Genetic Variants

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.E474Q

c.1420G>C

Surrounding Variants

2 papers

NM_001393986.1

p.S470F

c.1409C>T

1 paper

NM_001393986.1

p.V491insFs

c.1472dupT

1 paper

NM_001393986.1

p.G493fs

c.1477_1478fs

1 paper

NM_001393986.1

p.T496S

c.1486A>T

1 paper

NM_001393986.1

p.T496S

c.1487C>G

4 papers

NM_001393986.1

p.S450N

c.1349G>A

1 paper

NM_001393986.1

p.H501delins

c.1501delinsACTC

1 paper

NM_001393986.1

p.Q502ins1

c.1504_1505insATC

8 papers

NM_001393986.1

p.H501ins1

c.1501_1502insCTC

1 paper

NM_001393986.1

p.R500_H501ins1

c.1500_1501insTCT

1 paper

NM_001393986.1

p.H501ins1

c.1502_1503insCTC

1 paper

NM_001007257.3

p.S246_P247del2

c.736_740del6