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

1 paper

NM_000168.6

p.D1514fs

c.4540_4541fs

Surrounding Variants

1 paper

NM_000168.6

p.D1514delFs

c.4540delC

2 papers

NM_000168.6

p.H1515fs

c.4543_4544fs

3 papers

NM_000168.6

p.D1514_H1515delFs

c.4542_4545del4

1 paper

NM_000168.6

p.L1518M

c.4552C>A

1 paper

NM_000168.6

p.I1510L

c.4528A>T

1 paper

NM_000168.6

p.I1510V

c.4528A>G

1 paper

NM_000168.6

p.I1510L

c.4528A>C

1 paper

NM_000168.6

p.L1518L

c.4554G>C

1 paper

NM_000168.6

p.D1507del1

c.4519_4521delATC

1 paper

NM_000168.6

p.A1522S

c.4564G>T

1 paper

NM_000168.6

p.A1522T

c.4564G>A

2 papers

NM_000168.6

p.A1522fs

c.4564_4565fs