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.G1408R

c.4222G>A

Surrounding Variants

1 paper

NM_001374353.1

p.G1408R

c.4222G>C

1 paper

NM_001374353.1

p.M1407I

c.4221G>A

1 paper

NM_001374353.1

p.G1405C

c.4213G>T

1 paper

NM_001374353.1

p.G1402R

c.4204G>A

1 paper

NM_001374353.1

p.A1398T

c.4192G>A

1 paper

NM_005270.5

p.G1437_D1441del5

c.4309_4322del15

1 paper

NM_005270.5

p.A1439T

c.4315G>A

4 papers

NM_001374353.1

p.M1427I

c.4281G>A

NM_005270.5

p.M1444I

c.4332G>A

4 papers

NM_001374353.1

p.M1427I

c.4281G>C

NM_005270.5

p.M1444I

c.4332G>C

4 papers

NM_001374353.1

p.M1427I

c.4281G>T

NM_005270.5

p.M1444I

c.4332G>T

5 papers

NM_001374353.1

p.L1428F

c.4282C>T

NM_005270.5

p.L1445F

c.4333C>T

1 paper

NM_001374353.1

p.A1388S

c.4162G>T