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.R1786S

c.5358A>T

Surrounding Variants

1 paper

NM_002114.4

p.R1786S

c.5358A>C

2 papers

NM_002114.4

p.S1785L

c.5354C>T

1 paper

NM_002114.4

p.R1800T

c.5399G>C

1 paper

NM_002114.4

p.G1810S

c.5428G>A

2 papers

NM_002114.4

p.E1814Q

c.5440G>C

1 paper

NM_002114.4

p.K1815E

c.5443A>G

1 paper

NM_002114.4

p.S1819fs

c.5455_5456fs

1 paper

NM_002114.4

p.Q1727E

c.5179C>G

1 paper

NM_002114.4

p.Q1715*

c.5143C>T

1 paper

NM_002114.4

p.S1864Y

c.5591C>A

1 paper

NM_002114.4

p.V1709fs

c.5125_5126fs

1 paper

NM_002114.4

p.V1709insFs

c.5125_5126insT