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.I1421T

c.4262T>C

Surrounding Variants

1 paper

NM_000168.6

p.N1419_G1420delFs

c.4255_4259del5

1 paper

NM_000168.6

p.K1422T

c.4265A>C

1 paper

NM_000168.6

p.N1419fs

c.4255_4256fs

1 paper

NM_000168.6

p.Q1428insFs

c.4283_4284insA

4 papers

NM_000168.6

p.Q1414*

c.4240C>T

1 paper

NM_000168.6

p.P1429fs

c.4285_4286fs

1 paper

NM_000168.6

p.T1412_S1413delFs

c.4236_4237delTT

1 paper

NM_000168.6

p.H1430fs

c.4288_4289fs

1 paper

NM_000168.6

p.H1430delFs

c.4288delG

1 paper

NM_000168.6

p.T1412A

c.4234A>G

1 paper

NM_000168.6

p.P1431fs

c.4291_4292fs

1 paper

NM_000168.6

p.P1431insFs

c.4291_4292insG