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

2 papers

NM_001371271.1

p.P1554L

c.4661C>T

Surrounding Variants

1 paper

NM_001374353.1

p.P1537P

c.4611C>T

3 papers

NM_005270.5

p.S1555P

c.4663T>C

2 papers

NM_001374353.1

p.A1541E

c.4622C>A

1 paper

NM_001374353.1

p.P1530_R1531insC

c.4588_4592ins3

2 papers

NM_001371271.1

p.R1543H

c.4628G>A

1 paper

NM_005270.5

p.S1541Y

c.4622C>A

1 paper

NM_005270.5

p.L1534F

c.4600C>T

1 paper

NM_001374353.1

p.A1559insFs

c.4677dupC

1 paper

NM_001374353.1

p.S1515N

c.4544G>A

1 paper

NM_001374353.1

p.P1514L

c.4541C>T

1 paper

NM_005270.5

p.S1530_P1531insC

c.4588_4592ins3

1 paper

NM_005270.5

p.F1581S

c.4742T>C