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.Q1673R

c.5018A>G

Surrounding Variants

1 paper

NM_001393986.1

p.A1671T

c.5011G>A

1 paper

NM_001393986.1

p.S1679I

c.5036G>T

1 paper

NM_001393986.1

p.R1666G

c.4996A>G

1 paper

NM_001393986.1

p.P1648fs

c.4942_4943fs

2 papers

NM_001393986.1

p.G1646R

c.4936G>A

2 papers

NM_001393986.1

p.G1646R

c.4936G>C

1 paper

NM_001393986.1

p.G1647insFs

c.4941dupG

1 paper

NM_001393986.1

p.F1637F

c.4911C>T

1 paper

NM_001393986.1

p.R1636Q

c.4907G>A

1 paper

NM_001393986.1

p.R1636W

c.4906C>T

1 paper

NM_001393986.1

p.K1632K

c.4896A>G

1 paper

NM_001393986.1

p.H1612P

c.4835A>C