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.E278D

c.834A>T

Surrounding Variants

1 paper

NM_001393986.1

p.E278D

c.834A>C

2 papers

NM_001393986.1

p.D277E

c.831T>A

2 papers

NM_001393986.1

p.D277E

c.831T>G

6 papers

NM_001393986.1

p.D277_E278ins1

c.831_832insGAA

1 paper

NM_001393986.1

p.E280Q

c.838G>C

1 paper

NM_001393986.1

p.E282_D283insE

c.844_848ins3

1 paper

NM_001393986.1

p.E282D

c.846A>C

1 paper

NM_001393986.1

p.E282D

c.846A>T

5 papers

NM_001393986.1

p.D287del1

c.859_860delGAT

4 papers

NM_001007257.3

p.D82fs

c.244_245fs

NM_001393986.1

p.D283fs

c.847_848fs

1 paper

NM_001393986.1

p.D283fs

c.847_848fs

1 paper

NM_001393986.1

p.D283V

c.848A>T