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

1–12 of 88 variants

6 papers

NM_001385745.1

p.T133delFs

c.397_398delGT

4 papers

NM_001385745.1

p.I397_H398del1

c.1191_1193delTGG

4 papers

NM_001385745.1

p.H398_T399del1

c.1194_1196delGTG

3 papers

NM_001385745.1

p.I397_H398del2

c.1189_1193del6

3 papers

NM_001385745.1

p.H398_T399del2

c.1192_1196del6

3 papers

NM_001385745.1

p.H452_L453del1

c.1356_1358delAGG

3 papers

NM_001385745.1

p.L453_S454del1

c.1359_1361delGAC

3 papers

NM_001385745.1

p.Q516del1

c.1546_1547delCTG

2 papers

NM_001385745.1

p.T133del1

c.397_399delTGT

2 papers

NM_001385745.1

p.L172delFs

c.514_515delAG

2 papers

NM_001385745.1

p.I397_T399del0

c.1191_1196del6

2 papers

NM_001385745.1

p.I397_T399del3

c.1189_1196del9