Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.P123L

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
5 papers
NM_006734.4
p.P123L
c.368C>T
Surrounding Variants
1 paper
NM_006734.4
p.P131S
c.391C>T
1 paper
NM_006734.4
p.S132S
c.396C>T
1 paper
NM_006734.4
p.M110I
c.330G>T
1 paper
NM_006734.4
p.M110I
c.330G>C
1 paper
NM_006734.4
p.M110I
c.330G>A
1 paper
NM_006734.4
p.Q107K
c.319C>A
1 paper
NM_006734.4
p.Q102*
c.304C>T
1 paper
NM_006734.4
p.L158insFs
c.473_474ins11
1 paper
NM_006734.4
p.E81D
c.243G>T
1 paper
NM_006734.4
p.E81D
c.243G>C
1 paper
NM_006734.4
p.V79D
c.236T>A
2 papers
NM_006734.4
p.G65V
c.194G>T
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