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.A1396V

c.4187C>T

Surrounding Variants

1 paper

NM_000168.6

p.A1396ins2

c.4186_4187ins6

1 paper

NM_000168.6

p.M1397L

c.4189A>T

1 paper

NM_000168.6

p.M1397L

c.4189A>C

2 papers

NM_000168.6

p.Q1395*

c.4183C>T

1 paper

NM_000168.6

p.R1394C

c.4180C>T

1 paper

NM_000168.6

p.D1400fs

c.4198_4199fs

1 paper

NM_000168.6

p.S1392N

c.4175G>A

2 papers

NM_000168.6

p.D1400insFs

c.4198dupG

1 paper

NM_000168.6

p.G1391fs

c.4171_4172fs

3 papers

NM_000168.6

p.G1391delFs

c.4172delC

1 paper

NM_000168.6

p.S1401fs

c.4201_4202fs

2 papers

NM_000168.6

p.S1401delFs

c.4202delC