Varaico: Literature-Extracted Genetic Variants

PRDM5

92 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are k...

Pfam Domains

PRDM2_PRaa 10–134UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2aa 199–220UCSCZinc finger, C2H2 type

zf-metaa 234–255UCSCZinc-finger of C2H2 type

zf-C2H2aa 262–287UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 5

HGNC Alias Symbol

PFM2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_018699.4

p.V238_C239delFs

c.713_716del4

Surrounding Variants

3 papers

NM_018699.4

p.V238fs

c.712_713fs

1 paper

NM_018699.4

p.S241F

c.722C>T

1 paper

NM_018699.4

p.S241S

c.723T>C

1 paper

NM_018699.4

p.S247W

c.740C>G

2 papers

NM_018699.4

p.L227L

c.681A>G

2 papers

NM_018699.4

p.K224*

c.670A>T

1 paper

NM_018699.4

p.A223A

c.669G>A

1 paper

NM_018699.4

p.T222P

c.664A>C

1 paper

NM_018699.4

p.K276N

c.828G>T

1 paper

NM_018699.4

p.K276N

c.828G>C

1 paper

NM_018699.4

p.Q191K

c.571C>A

1 paper

NM_018699.4

p.H185Y

c.553C>T