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.D1445N

c.4333G>A

Surrounding Variants

4 papers

NM_000168.6

p.Q1442*

c.4324C>T

1 paper

NM_000168.6

p.V1448E

c.4343T>A

1 paper

NM_000168.6

p.G1449A

c.4346G>C

1 paper

NM_000168.6

p.Y1439fs

c.4315_4316fs

1 paper

NM_000168.6

p.N1438T

c.4313A>C

2 papers

NM_000168.6

p.Q1437*

c.4309C>T

2 papers

NM_000168.6

p.Q1453delFs

c.4359delT

1 paper

NM_000168.6

p.D1454fs

c.4360_4361fs

1 paper

NM_000168.6

p.C1433_S1434del2

c.4297_4301del6

1 paper

NM_000168.6

p.T1455M

c.4364C>T

1 paper

NM_000168.6

p.A1457fs

c.4369_4370fs

2 papers

NM_000168.6

p.A1457insFs

c.4370_4371insGC