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.G1217W

c.3649G>T

Surrounding Variants

1 paper

NM_000168.6

p.P1201_L1216del16

c.3601_3647del48

1 paper

NM_000168.6

p.L1216fs

c.3646_3647fs

3 papers

NM_000168.6

p.L1216insFs

c.3646_3647insC

2 papers

NM_000168.6

p.L1216fs

c.3646_3647fs

1 paper

NM_000168.6

p.T1215A

c.3643A>G

1 paper

NM_000168.6

p.Q1214R

c.3641A>G

2 papers

NM_000168.6

p.Q1214*

c.3640C>T

1 paper

NM_000168.6

p.Q1214E

c.3640C>G

1 paper

NM_000168.6

p.S1220_N1221insT

c.3658_3662ins3

3 papers

NM_000168.6

p.G1212delFs

c.3635delC

1 paper

NM_000168.6

p.P1222S

c.3664C>T

3 papers

NM_000168.6

p.G1212fs

c.3634_3635fs