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.I1155L

c.3463A>C

Surrounding Variants

1 paper

NM_001393986.1

p.E1158E

c.3474A>G

1 paper

NM_001393986.1

p.K1151fs

c.3451_3452fs

1 paper

NM_001393986.1

p.T1150_K1151delFs

c.3450_3453del4

1 paper

NM_001393986.1

p.P1161S

c.3481C>T

1 paper

NM_001393986.1

p.S1145S

c.3435C>T

1 paper

NM_001393986.1

p.T1175M

c.3524C>T

1 paper

NM_001393986.1

p.F1134L

c.3402T>A

1 paper

NM_001393986.1

p.F1134L

c.3402T>G

1 paper

NM_001393986.1

p.F1134L

c.3400T>C

2 papers

NM_001393986.1

p.D1123V

c.3368A>T

1 paper

NM_001393986.1

p.V1126del1

c.3376_3377delGTT

1 paper

NM_001393986.1

p.F1191delFs

c.3572delT