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.T1255N

c.3764C>A

Surrounding Variants

1 paper

NM_001393986.1

p.S1256F

c.3767C>T

1 paper

NM_001393986.1

p.E1254*

c.3760G>T

1 paper

NM_001393986.1

p.K1257_E1258del1

c.3770_3772delAAG

2 papers

NM_001393986.1

p.E1261del1

c.3781_3782delGAG

1 paper

NM_001393986.1

p.E1260Q

c.3778G>C

1 paper

NM_001393986.1

p.S1266F

c.3797C>T

1 paper

NM_001393986.1

p.H1244N

c.3730C>A

1 paper

NM_001393986.1

p.E1267K

c.3799G>A

2 papers

NM_001393986.1

p.P1285fs

c.3853_3854fs

1 paper

NM_001393986.1

p.E1225K

c.3673G>A

1 paper

NM_001393986.1

p.N1292S

c.3875A>G

1 paper

NM_001393986.1

p.K1299delFs

c.3895_3896delAA