Varaico: Literature-Extracted Genetic Variants

Gene:HIC1
Variant:p.Q432R

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
2 papers
NM_006497.4
p.Q432R
c.1295A>G
Surrounding Variants
1 paper
NM_006497.4
p.E444D
c.1332G>C
1 paper
NM_006497.4
p.E444D
c.1332G>T
1 paper
NM_006497.4
p.G449R
c.1345G>C
1 paper
NM_001098202.1
p.E471K
c.1411G>A
2 papers
NM_006497.4
p.A457T
c.1369G>A
1 paper
NM_006497.4
p.A406V
c.1217C>T
1 paper
NM_006497.4
p.G459_G462del0
c.1377_1385del9
1 paper
NM_006497.4
p.L463R
c.1388T>G
1 paper
NM_006497.4
p.P466_F467insGCC
c.1396_1400ins9
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.G470D
c.1409G>A
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