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.L1281delFs

c.3841delG

Surrounding Variants

1 paper

NM_000168.6

p.S1279L

c.3836C>T

1 paper

NM_000168.6

p.T1284T

c.3852C>A

1 paper

NM_000168.6

p.Q1277E

c.3829C>G

3 papers

NM_000168.6

p.M1286fs

c.3856_3857fs

8 papers

NM_000168.6

p.P1285insFs

c.3855dupC

1 paper

NM_000168.6

p.G1275E

c.3824G>A

1 paper

NM_000168.6

p.G1290W

c.3868G>T

1 paper

NM_000168.6

p.G1291D

c.3872G>A

1 paper

NM_000168.6

p.A1271S

c.3811G>T

1 paper

NM_000168.6

p.Q1292delFs

c.3874delG

1 paper

NM_000168.6

p.Q1292fs

c.3874_3875fs

1 paper

NM_000168.6

p.G1270S

c.3808G>A