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.M1312R

c.3935T>G

Surrounding Variants

1 paper

NM_000168.6

p.G1311D

c.3932G>A

1 paper

NM_000168.6

p.N1314D

c.3940A>G

1 paper

NM_000168.6

p.P1317insFs

c.3949_3950insG

2 papers

NM_000168.6

p.P1317fs

c.3949_3950fs

3 papers

NM_000168.6

p.P1317delFs

c.3950delG

1 paper

NM_000168.6

p.V1318L

c.3952G>T

1 paper

NM_000168.6

p.V1318L

c.3952G>C

1 paper

NM_000168.6

p.G1306S

c.3916G>A

2 papers

NM_000168.6

p.Q1320_G1321insT

c.3958_3962ins3

1 paper

NM_000168.6

p.N1302_S1304Fs

c.3904_3912delinsTFs

1 paper

NM_000168.6

p.S1304P

c.3910T>C

1 paper

NM_000168.6

p.G1321E

c.3962G>A