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.A1317V

c.3950C>T

Surrounding Variants

1 paper

NM_001393986.1

p.C1335R

c.4003T>C

1 paper

NM_001393986.1

p.K1299delFs

c.3895_3896delAA

1 paper

NM_001393986.1

p.N1292S

c.3875A>G

1 paper

NM_001393986.1

p.H1349Y

c.4045C>T

2 papers

NM_001393986.1

p.P1285fs

c.3853_3854fs

1 paper

NM_001393986.1

p.A1356T

c.4066G>A

1 paper

NM_001393986.1

p.S1359R

c.4075A>C

1 paper

NM_001393986.1

p.S1359R

c.4077T>A

1 paper

NM_001393986.1

p.S1359R

c.4077T>G

1 paper

NM_001393986.1

p.K1361del1

c.4081_4083delAAG

1 paper

NM_001393986.1

p.T1365insFs

c.4093dupA

1 paper

NM_001393986.1

p.E1267K

c.3799G>A