Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.E1872fs

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
3 papers
NM_006734.4
p.E1872fs
c.5614_5615fs
Surrounding Variants
3 papers
NM_006734.4
p.E1872insFs
c.5614dupG
1 paper
NM_006734.4
p.T1868A
c.5602A>G
1 paper
NM_006734.4
p.V1865G
c.5594T>G
1 paper
NM_006734.4
p.S1848Y
c.5543C>A
1 paper
NM_006734.4
p.T1843T
c.5529G>A
1 paper
NM_006734.4
p.T1843M
c.5528C>T
1 paper
NM_006734.4
p.D1894D
c.5682T>C
2 papers
NM_006734.4
p.Q1896*
c.5686C>T
1 paper
NM_006734.4
p.E1901E
c.5703G>A
4 papers
NM_006734.4
p.D1913fs
c.5737_5738fs
5 papers
NM_006734.4
p.D1913delFs
c.5737delC
1 paper
NM_006734.4
p.D1913fs
c.5737_5738fs
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