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.H632N

c.1894C>A

Surrounding Variants

1 paper

NM_000168.6

p.G633S

c.1897G>A

1 paper

NM_000168.6

p.T630insFs

c.1888_1889insT

1 paper

NM_000168.6

p.E635D

c.1905G>T

4 papers

NM_000168.6

p.H627delFs

c.1880_1881delAT

2 papers

NM_000168.6

p.E635_A636delFs

c.1903_1907del5

4 papers

NM_000168.6

p.H627P

c.1880A>C

6 papers

NM_000168.6

p.H627fs

c.1879_1880fs

1 paper

NM_000168.6

p.K626delFs

c.1878delT

1 paper

NM_000168.6

p.K626fs

c.1876_1877fs

1 paper

NM_000168.6

p.R625L

c.1874G>T

7 papers

NM_000168.6

p.R625Q

c.1874G>A

6 papers

NM_000168.6

p.R625W

c.1873C>T