Varaico: Literature-Extracted Genetic Variants

Gene:HIC1
Variant:p.C493S

HIC1

76 papers

RefSeq Summary

This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-D...

Pfam Domains

BTBaa 37–153UCSCBTB/POZ domain
zf-C2H2aa 507–529UCSCZinc finger, C2H2 type
zf-C2H2aa 535–557UCSCZinc finger, C2H2 type
zf-C2H2aa 563–585UCSCZinc finger, C2H2 type
zf-C2H2aa 591–613UCSCZinc finger, C2H2 type
zf-C2H2aa 591–613UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

HIC ZBTB transcriptional repressor 1

HGNC Alias Symbols

ZBTB29; ZNF901

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006497.4
p.C493S
c.1478G>C
Surrounding Variants
1 paper
NM_006497.4
p.C493S
c.1477T>A
1 paper
NM_006497.4
p.L481L
c.1441C>T
1 paper
NM_006497.4
p.W511C
c.1533G>C
1 paper
NM_006497.4
p.W511C
c.1533G>T
1 paper
NM_006497.4
p.D472D
c.1416C>T
2 papers
NM_006497.4
p.G471R
c.1411G>A
2 papers
NM_006497.4
p.G471R
c.1411G>C
1 paper
NM_006497.4
p.G470D
c.1409G>A
1 paper
NM_006497.4
p.G468R
c.1402G>A
1 paper
NM_006497.4
p.G468R
c.1402G>C
1 paper
NM_006497.4
p.P466_F467insGCC
c.1396_1400ins9
2 papers
NM_006497.4
p.C521S
c.1561T>A
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