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.R1078G

c.3232A>G

Surrounding Variants

1 paper

NM_002114.4

p.V1075G

c.3224T>G

1 paper

NM_002114.4

p.N1074S

c.3221A>G

1 paper

NM_002114.4

p.I1086V

c.3256A>G

1 paper

NM_002114.4

p.Q1061H

c.3183G>C

1 paper

NM_002114.4

p.Q1061H

c.3183G>T

1 paper

NM_002114.4

p.S1055F

c.3164C>T

1 paper

NM_002114.4

p.A1119A

c.3357A>T

1 paper

NM_002114.4

p.R1029I

c.3086G>T

1 paper

NM_002114.4

p.Q1127*

c.3379C>T

1 paper

NM_002114.4

p.G1020S

c.3058G>A

1 paper

NM_002114.4

p.P1145S

c.3433C>T

1 paper

NM_002114.4

p.E998Q

c.2992G>C