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.P648L

c.1943C>T

Surrounding Variants

1 paper

NM_000168.6

p.P648S

c.1942C>T

2 papers

NM_000168.6

p.R649W

c.1945C>T

1 paper

NM_000168.6

p.I646delFs

c.1938delG

1 paper

NM_000168.6

p.P651S

c.1951C>T

1 paper

NM_000168.6

p.G644R

c.1930G>C

2 papers

NM_000168.6

p.G644R

c.1930G>A

13 papers

NM_000168.6

p.R643*

c.1927C>T

1 paper

NM_000168.6

p.R654K

c.1961G>A

1 paper

NM_000168.6

p.D655G

c.1964A>G

1 paper

NM_000168.6

p.S656Y

c.1967C>A

1 paper

NM_000168.6

p.S656delins

c.1967_1968delinsAA

1 paper

NM_000168.6

p.S658G

c.1972A>G