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.P627S

c.1879C>T

Surrounding Variants

1 paper

NM_006497.4

p.K623R

c.1868A>G

1 paper

NM_006497.4

p.G620S

c.1858G>A

1 paper

NM_006497.4

p.R635P

c.1904G>C

1 paper

NM_006497.4

p.S642G

c.1924A>G

1 paper

NM_006497.4

p.D647N

c.1939G>A

1 paper

NM_006497.4

p.G601S

c.1801G>A

2 papers

NM_006497.4

p.A668T

c.2002G>A

1 paper

NM_006497.4

p.T679_A680insAG

c.2035_2039ins6

1 paper

NM_006497.4

p.C574Y

c.1721G>A

2 papers

NM_006497.4

p.D687N

c.2059G>A

1 paper

NM_006497.4

p.E561K

c.1681G>A

1 paper

NM_006497.4

p.R706G

c.2116C>G