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.P1431L

c.4292C>T

Surrounding Variants

1 paper

NM_000168.6

p.P1431insFs

c.4292_4293insG

1 paper

NM_000168.6

p.P1431fs

c.4291_4292fs

1 paper

NM_000168.6

p.P1431insFs

c.4291_4292insG

1 paper

NM_000168.6

p.H1430delFs

c.4288delG

1 paper

NM_000168.6

p.H1430fs

c.4288_4289fs

1 paper

NM_000168.6

p.P1429fs

c.4285_4286fs

1 paper

NM_000168.6

p.Q1428insFs

c.4283_4284insA

1 paper

NM_000168.6

p.C1433_S1434del2

c.4297_4301del6

2 papers

NM_000168.6

p.Q1437*

c.4309C>T

1 paper

NM_000168.6

p.N1438T

c.4313A>C

1 paper

NM_000168.6

p.Y1439fs

c.4315_4316fs

1 paper

NM_000168.6

p.K1422T

c.4265A>C