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.A1332T

c.3994G>A

Surrounding Variants

1 paper

NM_002114.4

p.T1330M

c.3989C>T

2 papers

NM_002114.4

p.K1335Q

c.4003A>C

1 paper

NM_002114.4

p.D1337N

c.4009G>A

1 paper

NM_002114.4

p.E1343K

c.4027G>A

1 paper

NM_002114.4

p.H1314Y

c.3940C>T

1 paper

NM_002114.4

p.R1361W

c.4081C>T

1 paper

NM_002114.4

p.R1361Q

c.4082G>A

1 paper

NM_002114.4

p.M1363I

c.4089G>A

1 paper

NM_002114.4

p.M1363I

c.4089G>C

1 paper

NM_002114.4

p.M1363I

c.4089G>T

3 papers

NM_002114.4

p.R1365L

c.4094G>T

1 paper

NM_002114.4

p.E1295K

c.3883G>A