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.I796delFs

c.2388delA

Surrounding Variants

1 paper

NM_000168.6

p.I796fs

c.2386_2387fs

1 paper

NM_000168.6

p.I796fs

c.2386_2387fs

3 papers

NM_000168.6

p.P795delFs

c.2385delG

1 paper

NM_000168.6

p.L793_P798del0

c.2379_2393del15

24 papers

NM_000168.6

p.R792*

c.2374C>T

1 paper

NM_000168.6

p.P791fs

c.2371_2372fs

7 papers

NM_000168.6

p.P791delFs

c.2372delG

1 paper

NM_000168.6

p.P802L

c.2405C>T

1 paper

NM_000168.6

p.L797_A801del0

c.2389_2403del15

1 paper

NM_000168.6

p.P791L

c.2372C>T

2 papers

NM_000168.6

p.A803P

c.2407G>C

2 papers

NM_000168.6

p.P791fs

c.2371_2372fs