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

1 paper

NM_002114.4

p.C2579C

c.7737C>T

Surrounding Variants

1 paper

NM_002114.4

p.A2565G

c.7694C>G

2 papers

NM_002114.4

p.V2563I

c.7687G>A

1 paper

NM_002114.4

p.R2596K

c.7787G>A

1 paper

NM_002114.4

p.A2562A

c.7686C>T

1 paper

NM_002114.4

p.R2608Q

c.7823G>A

1 paper

NM_002114.4

p.M2633T

c.7898T>C

1 paper

NM_002114.4

p.G2521R

c.7561G>A

1 paper

NM_002114.4

p.G2521R

c.7561G>C

1 paper

NM_002114.4

p.P2646H

c.7937C>A

1 paper

NM_002114.4

p.T2482A

c.7444A>G

1 paper

NM_002114.4

p.D2684H

c.8050G>C

4 papers

NM_002114.4

p.A2692G

c.8075C>G