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.T399ins2

c.1196_1197ins6

Surrounding Variants

3 papers

NM_001385745.1

p.I397_H398del2

c.1189_1193del6

4 papers

NM_001385745.1

p.H398_T399del1

c.1194_1196delGTG

2 papers

NM_001385745.1

p.I397_T399del0

c.1191_1196del6

4 papers

NM_001385745.1

p.I397_H398del1

c.1191_1193delTGG

3 papers

NM_001385745.1

p.H398_T399del2

c.1192_1196del6

2 papers

NM_001385745.1

p.I397_T399del3

c.1189_1196del9

1 paper

NM_001385745.1

p.H398ins2

c.1193_1194ins6

1 paper

NM_001385745.1

p.R402insFs

c.1206dupA

1 paper

NM_001385745.1

p.P403fs

c.1207_1208fs

1 paper

NM_001385745.1

p.Q392delFs

c.1175_1176delCT

1 paper

NM_001385745.1

p.Q392fs

c.1174_1175fs

1 paper

NM_001385745.1

p.F385del1

c.1153_1154delGAA