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.E201fs

c.601_602fs

Surrounding Variants

1 paper

NM_001385745.1

p.P205S

c.613C>T

1 paper

NM_001385745.1

p.K196*

c.586A>T

1 paper

NM_001385745.1

p.G183V

c.548G>T

1 paper

NM_001385745.1

p.G183A

c.548G>C

1 paper

NM_001385745.1

p.R229Splc

c.686+1G>A

1 paper

NM_001385745.1

p.L172delFs

c.515delA

2 papers

NM_001385745.1

p.L172delFs

c.514_515delAG

1 paper

NM_001385745.1

p.T171_L172delFs

c.513_514delGG

1 paper

NM_001385745.1

p.K167_V168delFs

c.501_502delCC

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.P153fs

c.457_458fs