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.T910A

c.2728A>G

Surrounding Variants

1 paper

NM_001393986.1

p.P915H

c.2744C>A

1 paper

NM_001393986.1

p.C916Y

c.2747G>A

1 paper

NM_001393986.1

p.D900N

c.2698G>A

1 paper

NM_001393986.1

p.Q922_P923del2

c.2764_2768del6

2 papers

NM_001393986.1

p.Q922L

c.2765A>T

1 paper

NM_001393986.1

p.Q922_P923del1

c.2766_2768delGCC

1 paper

NM_001393986.1

p.E895K

c.2683G>A

1 paper

NM_001393986.1

p.L927L

c.2781C>T

1 paper

NM_001393986.1

p.L892P

c.2675T>C

1 paper

NM_001393986.1

p.G928S

c.2782G>A

1 paper

NM_001393986.1

p.P929L

c.2786C>T

1 paper

NM_001393986.1

p.Q889R

c.2666A>G