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

1–12 of 188 variants

8 papers

NM_002114.4

p.T187M

c.560C>T

6 papers

NM_002114.4

p.M1609I

c.4827G>A

6 papers

NM_002114.4

p.M1609I

c.4827G>C

6 papers

NM_002114.4

p.M1609I

c.4827G>T

4 papers

NM_002114.4

p.A2692G

c.8075C>G

3 papers

NM_002114.4

p.T716A

c.2146A>G

3 papers

NM_002114.4

p.R898G

c.2692A>G

3 papers

NM_002114.4

p.R1365L

c.4094G>T

2 papers

NM_002114.4

p.L159F

c.475C>T

2 papers

NM_002114.4

p.T671M

c.2012C>T

2 papers

NM_002114.4

p.K1170N

c.3510G>C

2 papers

NM_002114.4

p.K1170N

c.3510G>T