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.L1428_A1432delFs

c.4283_4295del13

Surrounding Variants

1 paper

NM_001393986.1

p.N1426fs

c.4276_4277fs

1 paper

NM_001393986.1

p.L1428fs

c.4282_4283fs

1 paper

NM_001393986.1

p.N1426delFs

c.4277delA

2 papers

NM_001393986.1

p.S1414L

c.4241C>T

1 paper

NM_001393986.1

p.K1441N

c.4323G>T

1 paper

NM_001393986.1

p.D1445H

c.4333G>C

1 paper

NM_001393986.1

p.V1383L

c.4147G>C

1 paper

NM_001393986.1

p.V1383L

c.4147G>T

1 paper

NM_001393986.1

p.K1472R

c.4415A>G

1 paper

NM_001393986.1

p.K1480*

c.4438A>T

1 paper

NM_001393986.1

p.P1486delFs

c.4458delC

1 paper

NM_001393986.1

p.P1486fs

c.4456_4457fs