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.S1532F

c.4595C>T

Surrounding Variants

1 paper

NM_000168.6

p.S1532fs

c.4594_4595fs

3 papers

NM_000168.6

p.S1532Fs

c.4594_4596delinsAFs

1 paper

NM_000168.6

p.S1535S

c.4605C>T

9 papers

NM_000168.6

p.R1537C

c.4609C>T

3 papers

NM_000168.6

p.R1537H

c.4610G>A

2 papers

NM_000168.6

p.T1539fs

c.4615_4616fs

1 paper

NM_000168.6

p.T1539A

c.4615A>G

1 paper

NM_000168.6

p.T1540fs

c.4618_4619fs

1 paper

NM_000168.6

p.T1540A

c.4618A>G

1 paper

NM_000168.6

p.T1540delFs

c.4619delG

3 papers

NM_000168.6

p.T1539_R1542delFs

c.4615_4624del10

1 paper

NM_000168.6

p.G1521insFs

c.4562_4563insG