Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP3
Variant:p.S2144F

HIVEP3

204 papers

RefSeq Summary

This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serin...

Pfam Domains

zf-C2H2aa 220–242UCSCZinc finger, C2H2 type
zf-C2H2aa 1754–1776UCSCZinc finger, C2H2 type
zf-C2H2aa 1782–1806UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

HIVEP zinc finger 3

HGNC Alias Symbols

KRC; KBP1; KBP-1; SHN3; FLJ16752; KIAA1555; ZAS3; Schnurri-3; ZNF40C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024503.5
p.S2144F
c.6431C>T
Surrounding Variants
1 paper
NM_024503.5
p.Q2136_P2143delFs
c.6406_6427del22
1 paper
NM_024503.5
p.P2143L
c.6428C>T
1 paper
NM_024503.5
p.Q2136_S2142delFs
c.6406_6424del19
1 paper
NM_024503.5
p.K2137T
c.6410A>C
1 paper
NM_024503.5
p.G2198S
c.6592G>A
1 paper
NM_024503.5
p.G2199R
c.6595G>A
1 paper
NM_024503.5
p.G2199V
c.6596G>T
3 papers
NM_024503.5
p.Q2201*
c.6601C>T
1 paper
NM_024503.5
p.R2206Q
c.6617G>A
1 paper
NM_024503.5
p.G2229C
c.6685G>T
1 paper
NM_024503.5
p.R2241Q
c.6722G>A
1 paper
NM_024503.5
p.P2246L
c.6737C>T
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