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

1 paper

NM_000168.6

p.N1242_H1245del4

c.3724_3734del12

Surrounding Variants

1 paper

NM_000168.6

p.E1246K

c.3736G>A

1 paper

NM_000168.6

p.H1245P

c.3734A>C

1 paper

NM_000168.6

p.Q1247Q

c.3741G>A

1 paper

NM_000168.6

p.Q1247_P1248insFs

c.3740_3743dup4

1 paper

NM_000168.6

p.C1249Y

c.3746G>A

1 paper

NM_000168.6

p.G1241A

c.3722G>C

1 paper

NM_000168.6

p.Q1253*

c.3757C>T

1 paper

NM_000168.6

p.T1239A

c.3715A>G

1 paper

NM_000168.6

p.S1237R

c.3711T>G

1 paper

NM_000168.6

p.S1237R

c.3711T>A

1 paper

NM_000168.6

p.Y1254*

c.3762T>A

1 paper

NM_000168.6

p.S1237R

c.3709A>C