Varaico: Literature-Extracted Genetic Variants

GLI3

1,956 papers

RefSeq Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedge...

Pfam Domains

zf-C2H2_15aa 515–544UCSCC2H2 zinc finger

zf-C2H2aa 546–570UCSCZinc finger, C2H2 type

zf-C2H2aa 607–632UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLI family zinc finger 3

HGNC Previous Symbols

GCPS; PHS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000168.6

p.N1101insFs

c.3302dupA

Surrounding Variants

2 papers

NM_000168.6

p.N1101fs

c.3301_3302fs

1 paper

NM_000168.6

p.N1101D

c.3301A>G

1 paper

NM_000168.6

p.L1100insFs

c.3299dupT

1 paper

NM_000168.6

p.Q1103K

c.3307C>A

1 paper

NM_000168.6

p.N1104S

c.3311A>G

1 paper

NM_000168.6

p.Q1105*

c.3313C>T

1 paper

NM_000168.6

p.A1106T

c.3316G>A

1 paper

NM_000168.6

p.V1097L

c.3289G>T

1 paper

NM_000168.6

p.V1097L

c.3289G>C

1 paper

NM_000168.6

p.G1107fs

c.3319_3320fs

1 paper

NM_000168.6

p.V1096M

c.3286G>A

1 paper

NM_000168.6

p.D1095_V1096insA

c.3283_3287ins3