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.R736L

c.2207G>T

Surrounding Variants

1 paper

NM_002114.4

p.Q734*

c.2200C>T

1 paper

NM_002114.4

p.E745Q

c.2233G>C

1 paper

NM_002114.4

p.D754E

c.2262C>A

1 paper

NM_002114.4

p.D754E

c.2262C>G

1 paper

NM_002114.4

p.N755S

c.2264A>G

1 paper

NM_002114.4

p.T716T

c.2148G>A

3 papers

NM_002114.4

p.T716A

c.2146A>G

1 paper

NM_002114.4

p.R694K

c.2081G>A

1 paper

NM_002114.4

p.D683N

c.2047G>A

1 paper

NM_002114.4

p.A682V

c.2045C>T

1 paper

NM_002114.4

p.S791_F792delFs

c.2373_2374delTT

2 papers

NM_002114.4

p.T671M

c.2012C>T