Varaico: Literature-Extracted Genetic Variants

HIVEP1

148 papers

RefSeq Summary

This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fing...

Pfam Domains

zf-C2H2aa 434–456UCSCZinc finger, C2H2 type

zf-C2H2aa 2088–2110UCSCZinc finger, C2H2 type

zf-C2H2aa 2116–2140UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

HIVEP zinc finger 1

HGNC Alias Symbols

CIRIP; MBP-1; CRYBP1; PRDII-BF1; ZAS1; Schnurri-1; ZNF40A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_002114.4

p.M1609I

c.4827G>C

Surrounding Variants

6 papers

NM_002114.4

p.M1609I

c.4827G>A

6 papers

NM_002114.4

p.M1609I

c.4827G>T

1 paper

NM_002114.4

p.V1627V

c.4881G>A

1 paper

NM_002114.4

p.L1652V

c.4954C>G

1 paper

NM_002114.4

p.S1654P

c.4960T>C

1 paper

NM_002114.4

p.T1661S

c.4981A>T

1 paper

NM_002114.4

p.T1661S

c.4982C>G

1 paper

NM_002114.4

p.E1553K

c.4657G>A

1 paper

NM_002114.4

p.C1670Y

c.5009G>A

1 paper

NM_002114.4

p.E1681K

c.5041G>A

1 paper

NM_002114.4

p.P1522H

c.4565C>A

1 paper

NM_002114.4

p.A1520G

c.4559C>G