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

7 papers

NM_005270.5

p.D1520N

c.4558G>A

Surrounding Variants

1 paper

NM_001374353.1

p.H1504Y

c.4510C>T

1 paper

NM_005270.5

p.S1530_P1531insC

c.4588_4592ins3

1 paper

NM_001374353.1

p.P1514L

c.4541C>T

1 paper

NM_001374353.1

p.S1515N

c.4544G>A

1 paper

NM_005270.5

p.L1534F

c.4600C>T

2 papers

NM_001374353.1

p.L1488L

c.4464G>T

1 paper

NM_001374353.1

p.T1482delFs

c.4446delT

1 paper

NM_005270.5

p.S1541Y

c.4622C>A

1 paper

NM_001374353.1

p.S1481R

c.4443C>G

2 papers

NM_001371271.1

p.R1543H

c.4628G>A

1 paper

NM_001374353.1

p.P1530_R1531insC

c.4588_4592ins3

2 papers

NM_001374353.1

p.P1470S

c.4408C>T