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.P703_A704ins1

c.2109_2110insCTT

Surrounding Variants

1 paper

NM_001393986.1

p.P703_A704ins1

c.2109_2110insACT

1 paper

NM_001393986.1

p.P703_A704insP

c.2107_2111ins3

1 paper

NM_001393986.1

p.P703_A704ins1

c.2109_2110insCCC

1 paper

NM_001393986.1

p.P703_A704ins1

c.2109_2110insCCG

1 paper

NM_001393986.1

p.A704P

c.2110G>C

2 papers

NM_001393986.1

p.P703ins1

c.2108_2109insACC

1 paper

NM_001393986.1

p.P703ins1

c.2107_2108insATC

16 papers

NM_001393986.1

p.T702ins1

c.2104_2105insCTC

1 paper

NM_001393986.1

p.T702ins0

c.2104_2106dupACT

1 paper

NM_001393986.1

p.L701_T702ins1

c.2103_2104insTCT

1 paper

NM_001393986.1

p.L701L

c.2103A>T

1 paper

NM_001393986.1

p.Q698H

c.2094A>C