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

2 papers

NM_000168.6

p.R686_E687delins

c.2058_2059delinsAT

Surrounding Variants

4 papers

NM_000168.6

p.E687*

c.2059G>T

2 papers

NM_000168.6

p.E687fs

c.2059_2060fs

3 papers

NM_000168.6

p.E687delFs

c.2059delC

1 paper

NM_000168.6

p.E687fs

c.2059_2060fs

6 papers

NM_000168.6

p.E688*

c.2062G>T

2 papers

NM_000168.6

p.R686fs

c.2056_2057fs

1 paper

NM_000168.6

p.R686W

c.2056C>T

3 papers

NM_000168.6

p.K685insFs

c.2054dupA

6 papers

NM_000168.6

p.Q691fs

c.2071_2072fs

4 papers

NM_000168.6

p.Q691*

c.2071C>T

2 papers

NM_000168.6

p.Q691delFs

c.2072delT

4 papers

NM_000168.6

p.T682A

c.2044A>G