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.S234A

c.700T>G

Surrounding Variants

1 paper

NM_001374353.1

p.A232V

c.695C>T

3 papers

NM_001374353.1

p.R231Q

c.692G>A

1 paper

NM_001374353.1

p.R231W

c.691C>T

1 paper

NM_001374353.1

p.R229H

c.686G>A

1 paper

NM_001374353.1

p.R229L

c.686G>T

1 paper

NM_001374353.1

p.D240ins0

c.718_720dupGAC

1 paper

NM_001374353.1

p.D240del1

c.718_720delGAC

1 paper

NM_001374353.1

p.A241_S242del1

c.723_725delCAG

6 papers

NM_001374353.1

p.R226H

c.677G>A

2 papers

NM_001374353.1

p.R226L

c.677G>T

1 paper

NM_001374353.1

p.S242R

c.724A>C

1 paper

NM_001374353.1

p.S242R

c.726C>A