Varaico: Literature-Extracted Genetic Variants

Gene:HIC1
Variant:p.A406V

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.A406V
c.1217C>T
Surrounding Variants
1 paper
NM_006497.4
p.S381S
c.1143C>T
2 papers
NM_006497.4
p.Q432R
c.1295A>G
1 paper
NM_006497.4
p.D375N
c.1123G>A
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.P359S
c.1075C>T
2 papers
NM_006497.4
p.A457T
c.1369G>A
1 paper
NM_006497.4
p.G459_G462del0
c.1377_1385del9
3 papers
NM_006497.4
p.P351A
c.1051C>G
1 paper
NM_006497.4
p.L463R
c.1388T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."