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

3 papers

NM_000168.6

p.T615S

c.1843A>T

Surrounding Variants

1 paper

NM_000168.6

p.T615I

c.1844C>T

3 papers

NM_000168.6

p.T615S

c.1844C>G

1 paper

NM_000168.6

p.R617H

c.1850G>A

1 paper

NM_000168.6

p.T619T

c.1857A>G

1 paper

NM_000168.6

p.K610R

c.1829A>G

1 paper

NM_000168.6

p.D620Y

c.1858G>T

4 papers

NM_000168.6

p.C609Y

c.1826G>A

3 papers

NM_000168.6

p.P621L

c.1862C>T

1 paper

NM_000168.6

p.V608M

c.1822G>A

1 paper

NM_000168.6

p.Y607delFs

c.1820_1821delAT

1 paper

NM_000168.6

p.Y607fs

c.1819_1820fs

1 paper

NM_000168.6

p.P606A

c.1816C>G