Varaico: Literature-Extracted Genetic Variants

ZNF384

84 papers

RefSeq Summary

This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The ...

Pfam Domains

zf-C2H2aa 256–278UCSCZinc finger, C2H2 type

zf-C2H2aa 284–306UCSCZinc finger, C2H2 type

zf-C2H2aa 317–339UCSCZinc finger, C2H2 type

zf-C2H2aa 345–367UCSCZinc finger, C2H2 type

zf-C2H2aa 373–397UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 384

HGNC Alias Symbols

CAGH1A; NMP4; NP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001385745.1

p.L151L

c.453T>C

Surrounding Variants

1 paper

NM_001385745.1

p.L151I

c.451C>A

1 paper

NM_001385745.1

p.P153fs

c.457_458fs

1 paper

NM_001385745.1

p.P153S

c.457C>T

1 paper

NM_001385745.1

p.P153fs

c.457_458fs

1 paper

NM_001385745.1

p.P153delFs

c.458delG

1 paper

NM_001385745.1

p.P145S

c.433C>T

1 paper

NM_001385745.1

p.K167_V168delFs

c.501_502delCC

6 papers

NM_001385745.1

p.T133delFs

c.397_398delGT

2 papers

NM_001385745.1

p.T133del1

c.397_399delTGT

1 paper

NM_001385745.1

p.T133S

c.397A>T

1 paper

NM_001385745.1

p.T132T

c.396C>T

1 paper

NM_001385745.1

p.T171_L172delFs

c.513_514delGG