Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP1
Variant:p.T2482A

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.T2482A
c.7444A>G
Surrounding Variants
1 paper
NM_002114.4
p.T2444M
c.7331C>T
1 paper
NM_002114.4
p.G2521R
c.7561G>A
1 paper
NM_002114.4
p.G2521R
c.7561G>C
1 paper
NM_002114.4
p.T2440I
c.7319C>T
1 paper
NM_002114.4
p.V2434I
c.7300G>A
1 paper
NM_002114.4
p.S2432G
c.7294A>G
1 paper
NM_002114.4
p.P2418S
c.7252C>T
1 paper
NM_002114.4
p.T2415A
c.7243A>G
1 paper
NM_002114.4
p.P2408S
c.7222C>T
1 paper
NM_002114.4
p.V2401V
c.7203T>G
1 paper
NM_002114.4
p.A2562A
c.7686C>T
1 paper
NM_002114.4
p.V2401A
c.7202T>C
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