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.T733delFs

c.2197_2198delGT

Surrounding Variants

3 papers

NM_000168.6

p.T733fs

c.2197_2198fs

1 paper

NM_000168.6

p.P731H

c.2192C>A

2 papers

NM_000168.6

p.L730_G736delFs

c.2188_2206del19

1 paper

NM_000168.6

p.G736insFs

c.2207dupG

1 paper

NM_000168.6

p.G736G

c.2208T>A

3 papers

NM_000168.6

p.L730_G736delFs

c.2188_2207del20

2 papers

NM_000168.6

p.S737fs

c.2209_2210fs

1 paper

NM_000168.6

p.L730fs

c.2188_2189fs

1 paper

NM_000168.6

p.L730F

c.2188C>T

1 paper

NM_000168.6

p.E729D

c.2187G>T

1 paper

NM_000168.6

p.E729G

c.2186A>G

1 paper

NM_000168.6

p.E729A

c.2186A>C