Varaico: Literature-Extracted Genetic Variants

GLI2

505 papers

RefSeq Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zi...

Pfam Domains

zf-C2H2_15aa 472–501UCSCC2H2 zinc finger

zf-C2H2aa 503–527UCSCZinc finger, C2H2 type

zf-C2H2aa 564–589UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLI family zinc finger 2

HGNC Alias Symbols

THP2; HPE9; THP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001374353.1

p.G198E

c.593G>A

Surrounding Variants

2 papers

NM_001374353.1

p.G198R

c.592G>A

2 papers

NM_001374353.1

p.G198R

c.592G>C

1 paper

NM_001374353.1

p.G198fs

c.592_593fs

1 paper

NM_001374353.1

p.G199insFs

c.596dupG

1 paper

NM_001374353.1

p.G199R

c.595G>C

1 paper

NM_001374353.1

p.S197insFs

c.591dupC

3 papers

NM_001374353.1

p.A200T

c.598G>A

1 paper

NM_001374353.1

p.A200fs

c.598_599fs

1 paper

NM_001374353.1

p.A200G

c.599C>G

1 paper

NM_001374353.1

p.L194Q

c.581T>A

2 papers

NM_001374353.1

p.A203T

c.607G>A

1 paper

NM_001374353.1

p.D192D

c.576C>T