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

15 papers

NM_001374353.1

p.A268V

c.803C>T

Surrounding Variants

3 papers

NM_001374353.1

p.S267S

c.801G>A

1 paper

NM_001374353.1

p.S267*

c.800C>A

1 paper

NM_001374353.1

p.S270insFs

c.808_809ins17

1 paper

NM_001374353.1

p.S270insFs

c.810dupC

1 paper

NM_001374353.1

p.S266G

c.796A>G

1 paper

NM_001374353.1

p.G271S

c.811G>A

1 paper

NM_001374353.1

p.G271insFs

c.811_812ins17

1 paper

NM_001374353.1

p.G271fs

c.811_812fs

1 paper

NM_001374353.1

p.S265I

c.794G>T

2 papers

NM_001374353.1

p.S272A

c.814T>G

1 paper

NM_001374353.1

p.R264Q

c.791G>A

1 paper

NM_001374353.1

p.R264*

c.790C>T