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.Q960E

c.2878C>G

Surrounding Variants

1 paper

NM_001393986.1

p.S957S

c.2871A>G

1 paper

NM_001393986.1

p.S957*

c.2870C>A

1 paper

NM_001393986.1

p.S957*

c.2870C>G

1 paper

NM_001393986.1

p.D969Y

c.2905G>T

3 papers

NM_001393986.1

p.P949A

c.2845C>G

1 paper

NM_001393986.1

p.P974L

c.2921C>T

1 paper

NM_001393986.1

p.T941I

c.2822C>T

1 paper

NM_001393986.1

p.V979I

c.2935G>A

1 paper

NM_001393986.1

p.P985S

c.2953C>T

1 paper

NM_001393986.1

p.P987P

c.2961T>C

1 paper

NM_001393986.1

p.S931A

c.2791T>G

1 paper

NM_001393986.1

p.P929L

c.2786C>T