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_005270.5

p.F1180_G1181del2

c.3538_3542del6

Surrounding Variants

1 paper

NM_001374353.1

p.G1164S

c.3490G>A

1 paper

NM_001374353.1

p.G1164R

c.3490G>C

1 paper

NM_001374353.1

p.Q1165delFs

c.3493delC

1 paper

NM_005270.5

p.K1177E

c.3529A>G

1 paper

NM_001374353.1

p.Q1159H

c.3477G>C

1 paper

NM_001374353.1

p.Q1159H

c.3477G>T

1 paper

NM_005270.5

p.P1184Q

c.3551C>A

1 paper

NM_005270.5

p.G1185delFs

c.3555delC

7 papers

NM_001374353.1

p.V1156L

c.3466G>T

1 paper

NM_005270.5

p.Y1186fs

c.3556_3557fs

2 papers

NM_001371271.1

p.Q1192*

c.3574C>T

3 papers

NM_001374353.1

p.S1177G

c.3529A>G