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.P1066delFs

c.3196delG

Surrounding Variants

1 paper

NM_000168.6

p.P1067_S1068ins5

c.3199_3203ins15

1 paper

NM_000168.6

p.P1067L

c.3200C>T

1 paper

NM_000168.6

p.S1063F

c.3188C>T

1 paper

NM_000168.6

p.G1054_H1061del8

c.3160_3182del24

1 paper

NM_000168.6

p.E1071D

c.3213G>T

1 paper

NM_000168.6

p.E1071D

c.3213G>C

1 paper

NM_000168.6

p.N1072T

c.3215A>C

1 paper

NM_000168.6

p.V1073I

c.3217G>A

1 paper

NM_000168.6

p.S1063_V1073delFs

c.3189_3219del31

5 papers

NM_000168.6

p.R1058*

c.3172C>T

1 paper

NM_000168.6

p.E1076K

c.3226G>A

1 paper

NM_000168.6

p.Q1056delFs

c.3168delC