Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.H1110L

HIVEP2

186 papers

RefSeq Summary

This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various ...

Pfam Domains

zf-C2H2aa 189–211UCSCZinc finger, C2H2 type
zf-C2H2aa 1799–1821UCSCZinc finger, C2H2 type
zf-C2H2aa 1827–1851UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

HIVEP zinc finger 2

HGNC Alias Symbols

MBP-2; HIV-EP2; MIBP1; ZAS2; Schnurri-2; ZNF40B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006734.4
p.H1110L
c.3329A>T
Surrounding Variants
1 paper
NM_006734.4
p.D1100Y
c.3298G>T
1 paper
NM_006734.4
p.Q1094*
c.3280C>T
1 paper
NM_006734.4
p.G1088A
c.3263G>C
1 paper
NM_006734.4
p.D1134G
c.3401A>G
1 paper
NM_006734.4
p.P1145fs
c.3433_3434fs
2 papers
NM_006734.4
p.P1145fs
c.3433_3434fs
3 papers
NM_006734.4
p.P1145delFs
c.3434delG
1 paper
NM_006734.4
p.S1070*
c.3209C>G
1 paper
NM_006734.4
p.S1070*
c.3209C>A
1 paper
NM_006734.4
p.T1068M
c.3203C>T
1 paper
NM_006734.4
p.A1065T
c.3193G>A
1 paper
NM_006734.4
p.G1063G
c.3189A>C
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