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

4 papers

NM_001374353.1

p.R374H

c.1121G>A

Surrounding Variants

1 paper

NM_001374353.1

p.K373delFs

c.1118delA

1 paper

NM_001374353.1

p.V377I

c.1129G>A

1 paper

NM_001374353.1

p.A370T

c.1108G>A

1 paper

NM_001374353.1

p.A370fs

c.1108_1109fs

1 paper

NM_001374353.1

p.A370delFs

c.1108delG

1 paper

NM_001374353.1

p.V369_A370delFs

c.1107_1108delCG

1 paper

NM_001374353.1

p.E380_L384del0

c.1138_1152del15

9 papers

NM_001374353.1

p.E380*

c.1138G>T

1 paper

NM_001374353.1

p.P368L

c.1103C>T

1 paper

NM_001374353.1

p.P368S

c.1102C>T

1 paper

NM_001374353.1

p.E382Q

c.1144G>C

1 paper

NM_001374353.1

p.E382A

c.1145A>C