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.S1137R

c.3409A>C

Surrounding Variants

1 paper

NM_000168.6

p.D1136_S1137del1

c.3407_3409delTGT

1 paper

NM_000168.6

p.S1137R

c.3411C>G

1 paper

NM_000168.6

p.S1137R

c.3411C>A

3 papers

NM_000168.6

p.H1138fs

c.3412_3413fs

1 paper

NM_000168.6

p.P1135L

c.3404C>T

1 paper

NM_000168.6

p.H1138fs

c.3412_3413fs

1 paper

NM_000168.6

p.A1139S

c.3415G>T

4 papers

NM_000168.6

p.H1138delFs

c.3414delG

1 paper

NM_000168.6

p.G1133E

c.3398G>A

1 paper

NM_000168.6

p.G1133_L1134insC

c.3397_3401ins3

1 paper

NM_000168.6

p.A1131V

c.3392C>T

1 paper

NM_000168.6

p.F1143I

c.3427T>A