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.Y190delFs

c.570delC

Surrounding Variants

1 paper

NM_001374353.1

p.Y190*

c.570C>A

1 paper

NM_001374353.1

p.Y190*

c.570C>G

3 papers

NM_001374353.1

p.G191R

c.571G>A

3 papers

NM_001374353.1

p.G191R

c.571G>C

1 paper

NM_001374353.1

p.G191A

c.572G>C

1 paper

NM_001374353.1

p.D192D

c.576C>T

2 papers

NM_001374353.1

p.A188P

c.562G>C

1 paper

NM_001374353.1

p.L194Q

c.581T>A

1 paper

NM_001374353.1

p.H186insFs

c.557dupA

2 papers

NM_001374353.1

p.H186insFs

c.556_557dupCA

1 paper

NM_001374353.1

p.G185R

c.553G>C

2 papers

NM_001374353.1

p.G185C

c.553G>T