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.K162M

c.485A>T

Surrounding Variants

1 paper

NM_001393986.1

p.R163W

c.487C>T

1 paper

NM_001393986.1

p.R163Q

c.488G>A

1 paper

NM_001393986.1

p.S164T

c.491G>C

3 papers

NM_001393986.1

p.A159V

c.476C>T

1 paper

NM_001393986.1

p.A159P

c.475G>C

1 paper

NM_001393986.1

p.P166T

c.496C>A

1 paper

NM_001393986.1

p.E155_R156insG

c.463_467ins3

1 paper

NM_001393986.1

p.E154K

c.460G>A

1 paper

NM_001393986.1

p.G133G

c.399C>T

6 papers

NM_001393986.1

p.G133D

c.398G>A

1 paper

NM_001393986.1

p.P132L

c.395C>T

1 paper

NM_001393986.1

p.P132insFs

c.394_395ins40