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

3 papers

NM_001385745.1

p.Q516del1

c.1546_1547delCTG

Surrounding Variants

1 paper

NM_001385745.1

p.A515del1

c.1543_1544delAGC

1 paper

NM_001385745.1

p.Q514_A515del1

c.1542_1544delGCC

1 paper

NM_001385745.1

p.A513_Q514del2

c.1537_1541del6

1 paper

NM_001385745.1

p.Q514del1

c.1540_1541delCTG

1 paper

NM_001385745.1

p.A513_Q514del1

c.1539_1541delTGG

2 papers

NM_001385745.1

p.Q514_A515del2

c.1540_1544del6

1 paper

NM_001385745.1

p.A527_S528insFs

c.1581_1582insT

1 paper

NM_133476.5

p.A438S

c.1312G>T

1 paper

NM_001385745.1

p.A501_A502del2

c.1501_1505del6

1 paper

NM_001385745.1

p.A500_A501ins2

c.1500_1501ins6

1 paper

NM_001385745.1

p.Q493R

c.1478A>G

1 paper

NM_001385745.1

p.Q547del1

c.1639_1640delCTG