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_005270.5

p.P1485A

c.4453C>G

Surrounding Variants

2 papers

NM_001374353.1

p.P1470S

c.4408C>T

1 paper

NM_001374353.1

p.S1465insFs

c.4395dupC

1 paper

NM_001374353.1

p.D1464N

c.4390G>A

2 papers

NM_001374353.1

p.S1454S

c.4362C>T

1 paper

NM_001374353.1

p.S1481R

c.4443C>G

1 paper

NM_001374353.1

p.T1482delFs

c.4446delT

2 papers

NM_001374353.1

p.Q1450H

c.4350G>C

2 papers

NM_001374353.1

p.Q1450H

c.4350G>T

2 papers

NM_001374353.1

p.L1488L

c.4464G>T

4 papers

NM_001374353.1

p.E1444E

c.4332G>A

1 paper

NM_001374353.1

p.E1444D

c.4332G>C

1 paper

NM_001374353.1

p.E1444_N1445delins

c.4332_4333delinsAT