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.D1269H

c.3805G>C

Surrounding Variants

1 paper

NM_000168.6

p.G1270S

c.3808G>A

1 paper

NM_000168.6

p.L1268F

c.3802C>T

1 paper

NM_000168.6

p.A1271S

c.3811G>T

1 paper

NM_000168.6

p.V1263fs

c.3787_3788fs

1 paper

NM_000168.6

p.P1262_V1263insFs

c.3784_3787dup4

1 paper

NM_000168.6

p.G1275E

c.3824G>A

1 paper

NM_000168.6

p.P1262S

c.3784C>T

1 paper

NM_000168.6

p.Q1261Q

c.3783G>A

1 paper

NM_000168.6

p.Q1261R

c.3782A>G

1 paper

NM_000168.6

p.Q1277E

c.3829C>G

1 paper

NM_000168.6

p.S1279L

c.3836C>T

1 paper

NM_000168.6

p.L1281delFs

c.3841delG