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.W246R

c.736T>A

Surrounding Variants

3 papers

NM_001393986.1

p.W246_E247del2

c.736_740del6

1 paper

NM_001393986.1

p.P244_W246del3

c.730_737del9

3 papers

NM_001393986.1

p.D253E

c.759C>A

3 papers

NM_001393986.1

p.D253E

c.759C>G

1 paper

NM_001393986.1

p.R255*

c.763C>T

1 paper

NM_001393986.1

p.A231D

c.692C>A

3 papers

NM_001393986.1

p.Q228_E229insGAA

c.682_686ins9

1 paper

NM_001393986.1

p.L227insFs

c.679_680insAG

1 paper

NM_001393986.1

p.P224L

c.671C>T

1 paper

NM_001393986.1

p.P224S

c.670C>T

1 paper

NM_001393986.1

p.E272_E273del1

c.816_818delGGA

1 paper

NM_001393986.1

p.E271K

c.811G>A