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

8 papers

NM_002114.4

p.T187M

c.560C>T

Surrounding Variants

1 paper

NM_002114.4

p.P189S

c.565C>T

1 paper

NM_002114.4

p.T194N

c.581C>A

1 paper

NM_002114.4

p.E178Q

c.532G>C

1 paper

NM_002114.4

p.R173G

c.517A>G

1 paper

NM_002114.4

p.M203V

c.607A>G

2 papers

NM_002114.4

p.L159F

c.475C>T

1 paper

NM_002114.4

p.S141Y

c.422C>A

1 paper

NM_002114.4

p.L137L

c.409C>T

1 paper

NM_002114.4

p.S123*

c.368C>A

1 paper

NM_002114.4

p.S123*

c.368C>G

1 paper

NM_002114.4

p.C259F

c.776G>T

1 paper

NM_002114.4

p.G113fs

c.337_338fs