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.H1124fs

c.3370_3371fs

Surrounding Variants

3 papers

NM_000168.6

p.H1124insFs

c.3370dupC

1 paper

NM_000168.6

p.H1124H

c.3372C>T

1 paper

NM_000168.6

p.V1122delFs

c.3365_3366delCA

1 paper

NM_000168.6

p.V1122fs

c.3364_3365fs

1 paper

NM_000168.6

p.V1122A

c.3365T>C

1 paper

NM_000168.6

p.G1125G

c.3375G>T

1 paper

NM_000168.6

p.P1126S

c.3376C>T

1 paper

NM_000168.6

p.D1128Y

c.3382G>T

4 papers

NM_000168.6

p.D1128fs

c.3382_3383fs

5 papers

NM_000168.6

p.D1128delFs

c.3383delT

1 paper

NM_000168.6

p.D1119A

c.3356A>C

1 paper

NM_000168.6

p.D1118A

c.3353A>C