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.F385del1

c.1153_1154delGAA

Surrounding Variants

1 paper

NM_001385745.1

p.Q392fs

c.1174_1175fs

1 paper

NM_001385745.1

p.Q392delFs

c.1175_1176delCT

1 paper

NM_001385745.1

p.A364V

c.1091C>T

1 paper

NM_001135734.3

p.A327T

c.979G>A

1 paper

NM_001385745.1

p.T342R

c.1025C>G

1 paper

NM_001385745.1

p.M340I

c.1020G>A

1 paper

NM_001385745.1

p.H337Y

c.1009C>T

1 paper

NM_001385745.1

p.I336N

c.1007T>A

1 paper

NM_001385745.1

p.R335Fs

c.1003delinsGAFs

1 paper

NM_001385745.1

p.H333H

c.999C>T

1 paper

NM_001385745.1

p.H305H

c.915C>T

1 paper

NM_133476.5

p.S247F

c.740C>T