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.G1140_F1143del4

c.3418_3428del12

Surrounding Variants

1 paper

NM_000168.6

p.F1143I

c.3427T>A

3 papers

NM_000168.6

p.F1143fs

c.3427_3428fs

1 paper

NM_000168.6

p.A1145A

c.3435C>T

1 paper

NM_000168.6

p.L1146fs

c.3436_3437fs

1 paper

NM_000168.6

p.L1146fs

c.3436_3437fs

7 papers

NM_000168.6

p.E1147*

c.3439G>T

1 paper

NM_000168.6

p.Q1148*

c.3442C>T

3 papers

NM_000168.6

p.F1143_Q1148delFs

c.3427_3443del17

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.H1138fs

c.3412_3413fs

3 papers

NM_000168.6

p.H1138fs

c.3412_3413fs