Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.L1718fs

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.L1718fs
c.5152_5153fs
Surrounding Variants
1 paper
NM_006734.4
p.L1718H
c.5153T>A
1 paper
NM_006734.4
p.L1718fs
c.5152_5153fs
3 papers
NM_006734.4
p.K1717insFs
c.5150dupA
1 paper
NM_006734.4
p.G1714G
c.5142A>G
1 paper
NM_006734.4
p.S1696F
c.5087C>T
1 paper
NM_006734.4
p.L1693V
c.5077C>G
1 paper
NM_006734.4
p.K1688R
c.5063A>G
1 paper
NM_006734.4
p.S1676T
c.5027G>C
1 paper
NM_006734.4
p.T1643I
c.4928C>T
1 paper
NM_006734.4
p.A1630V
c.4889C>T
1 paper
NM_006734.4
p.T1627T
c.4881G>A
1 paper
NM_006734.4
p.V1619V
c.4857G>A
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