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.D678fs

c.2032_2033fs

Surrounding Variants

3 papers

NM_000168.6

p.D678delFs

c.2032delC

1 paper

NM_000168.6

p.D678fs

c.2032_2033fs

1 paper

NM_000168.6

p.Q677*

c.2029C>T

1 paper

NM_000168.6

p.Q677E

c.2029C>G

1 paper

NM_000168.6

p.Q676Q

c.2028G>A

3 papers

NM_000168.6

p.E675delFs

c.2023delC

3 papers

NM_000168.6

p.E675fs

c.2023_2024fs

2 papers

NM_000168.6

p.G674delFs

c.2021delC

4 papers

NM_000168.6

p.T682A

c.2044A>G

1 paper

NM_000168.6

p.D678_N681del4

c.2032_2042del12

2 papers

NM_000168.6

p.G671insFs

c.2012dupG

2 papers

NM_000168.6

p.G671delFs

c.2012delC