Varaico: Literature-Extracted Genetic Variants

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

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.K524R

c.1571A>G

Surrounding Variants

1 paper

NM_006497.4

p.K523_K524insGCC

c.1567_1571ins9

1 paper

NM_006497.4

p.G522ins1

c.1565_1566insGAA

2 papers

NM_006497.4

p.C521S

c.1562G>C

1 paper

NM_006497.4

p.C521F

c.1562G>T

1 paper

NM_006497.4

p.C521delins

c.1562_1563delinsTT

2 papers

NM_006497.4

p.C521S

c.1561T>A

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.L541ins1

c.1622_1623insGAA

1 paper

NM_006497.4

p.C493S

c.1478G>C

1 paper

NM_006497.4

p.C493S

c.1477T>A

1 paper

NM_006497.4

p.E561K

c.1681G>A