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

1–12 of 70 variants

4 papers

NM_006497.4

p.K314R

c.941A>G

4 papers

NM_006497.4

p.E316A

c.947A>C

3 papers

NM_006497.4

p.P351A

c.1051C>G

2 papers

NM_006497.4

p.A37V

c.110C>T

2 papers

NM_006497.4

p.P359S

c.1075C>T

2 papers

NM_006497.4

p.Q432R

c.1295A>G

2 papers

NM_006497.4

p.A457T

c.1369G>A

2 papers

NM_006497.4

p.G471R

c.1411G>A

2 papers

NM_006497.4

p.G471R

c.1411G>C

2 papers

NM_006497.4

p.C521S

c.1561T>A

2 papers

NM_006497.4

p.C521S

c.1562G>C

2 papers

NM_006497.4

p.A668T

c.2002G>A