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.V2401A

c.7202T>C

Surrounding Variants

1 paper

NM_002114.4

p.V2401V

c.7203T>G

1 paper

NM_002114.4

p.P2408S

c.7222C>T

1 paper

NM_002114.4

p.T2415A

c.7243A>G

1 paper

NM_002114.4

p.P2418S

c.7252C>T

1 paper

NM_002114.4

p.L2373_P2374del0

c.7117_7122del6

1 paper

NM_002114.4

p.S2432G

c.7294A>G

1 paper

NM_002114.4

p.P2369L

c.7106C>T

1 paper

NM_002114.4

p.V2434I

c.7300G>A

1 paper

NM_002114.4

p.T2440I

c.7319C>T

1 paper

NM_002114.4

p.T2444M

c.7331C>T

1 paper

NM_002114.4

p.A2345T

c.7033G>A

1 paper

NM_002114.4

p.E2339Q

c.7015G>C