Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.L1314F

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.L1314F
c.3940C>T
Surrounding Variants
1 paper
NM_006734.4
p.S1320P
c.3958T>C
1 paper
NM_006734.4
p.P1330A
c.3988C>G
1 paper
NM_006734.4
p.T1332T
c.3996A>C
1 paper
NM_006734.4
p.M1349R
c.4046T>G
1 paper
NM_006734.4
p.Q1355H
c.4065G>T
1 paper
NM_006734.4
p.Q1355H
c.4065G>C
1 paper
NM_006734.4
p.A1272S
c.3814G>T
1 paper
NM_006734.4
p.A1272T
c.3814G>A
1 paper
NM_006734.4
p.Y1271_A1272delins
c.3813_3814delinsCA
1 paper
NM_006734.4
p.E1262K
c.3784G>A
2 papers
NM_006734.4
p.V1369V
c.4107C>T
4 papers
NM_006734.4
p.Q1248*
c.3742C>T
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