Varaico: Literature-Extracted Genetic Variants

Gene:HIC1
Variant:p.E316A

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
4 papers
NM_006497.4
p.E316A
c.947A>C
Surrounding Variants
1 paper
NM_006497.4
p.P317A
c.949C>G
4 papers
NM_006497.4
p.K314R
c.941A>G
1 paper
NM_006497.4
p.K314Q
c.940A>C
1 paper
NM_006497.4
p.L319V
c.955C>G
1 paper
NM_006497.4
p.R330R
c.990C>T
3 papers
NM_006497.4
p.P351A
c.1051C>G
2 papers
NM_006497.4
p.P359S
c.1075C>T
1 paper
NM_006497.4
p.D375N
c.1123G>A
1 paper
NM_006497.4
p.S254N
c.761G>A
1 paper
NM_006497.4
p.S381S
c.1143C>T
1 paper
NM_006497.4
p.K227insFs
c.679_680insAG
1 paper
NM_006497.4
p.A406V
c.1217C>T
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