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.G1346delFs

c.4038delC

Surrounding Variants

2 papers

NM_000168.6

p.Q1347fs

c.4039_4040fs

1 paper

NM_000168.6

p.Q1347*

c.4039C>T

1 paper

NM_000168.6

p.Q1347K

c.4039C>A

1 paper

NM_000168.6

p.M1344T

c.4031T>C

1 paper

NM_000168.6

p.Q1342E

c.4024C>G

1 paper

NM_000168.6

p.G1341fs

c.4021_4022fs

1 paper

NM_000168.6

p.G1341delFs

c.4022delC

2 papers

NM_000168.6

p.P1340P

c.4020C>T

1 paper

NM_000168.6

p.H1353R

c.4058A>G

1 paper

NM_000168.6

p.I1354V

c.4060A>G

1 paper

NM_000168.6

p.R1339H

c.4016G>A

1 paper

NM_000168.6

p.I1354I

c.4062C>T