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.P1568fs

c.4702_4703fs

Surrounding Variants

1 paper

NM_001393986.1

p.K1566insFs

c.4696dupA

1 paper

NM_001393986.1

p.S1562L

c.4685C>T

3 papers

NM_001393986.1

p.P1578L

c.4733C>T

2 papers

NM_001393986.1

p.V1557I

c.4669G>A

1 paper

NM_001393986.1

p.S1548F

c.4643C>T

1 paper

NM_001393986.1

p.K1591fs

c.4771_4772fs

1 paper

NM_001393986.1

p.Q1543K

c.4627C>A

3 papers

NM_001393986.1

p.N1598K

c.4794T>A

3 papers

NM_001393986.1

p.N1598K

c.4794T>G

1 paper

NM_001393986.1

p.K1533*

c.4597A>T

1 paper

NM_001393986.1

p.R1609W

c.4825C>T

1 paper

NM_001393986.1

p.H1612P

c.4835A>C