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.T457insFs

c.1371dupA

Surrounding Variants

1 paper

NM_001385745.1

p.T457I

c.1370C>T

1 paper

NM_001385745.1

p.A461T

c.1381G>A

3 papers

NM_001385745.1

p.L453_S454del1

c.1359_1361delGAC

1 paper

NM_001385745.1

p.H452_S454del0

c.1356_1361del6

1 paper

NM_001385745.1

p.S454ins1

c.1361_1362insGCA

3 papers

NM_001385745.1

p.H452_L453del1

c.1356_1358delAGG

1 paper

NM_001385745.1

p.C436_H437del1

c.1308_1310delTGG

1 paper

NM_001385745.1

p.H437ins3

c.1310_1311ins9

1 paper

NM_001385745.1

p.F434_K435del1

c.1302_1304delTTG

1 paper

NM_001385745.1

p.M483_R484delins

c.1448_1451delinsATTTTGAGTGGGACCCGAACGA

1 paper

NM_001385745.1

p.Q493R

c.1478A>G

1 paper

NM_001385745.1

p.A500_A501ins2

c.1500_1501ins6