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.V1312_P1315del4

c.3934_3944del12

Surrounding Variants

1 paper

NM_001374353.1

p.P1296_P1298delins

c.3888_3892delinsGCCAT

2 papers

NM_005270.5

p.P1315S

c.3943C>T

NM_001374353.1

p.P1298S

c.3892C>T

1 paper

NM_001374353.1

p.D1289N

c.3865G>A

1 paper

NM_001374353.1

p.E1284delFs

c.3850delG

1 paper

NM_001374353.1

p.R1281H

c.3842G>A

1 paper

NM_005270.5

p.S1331C

c.3992C>G

1 paper

NM_005270.5

p.P1290L

c.3869C>T

1 paper

NM_001374353.1

p.A1329T

c.3985G>A

1 paper

NM_001374353.1

p.G1333V

c.3998G>T

4 papers

NM_005270.5

p.M1352V

c.4054A>G

1 paper

NM_001374353.1

p.C1253R

c.3757T>C

1 paper

NM_001374353.1

p.S1254del1

c.3760_3762delAGC