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

13 papers

NM_000168.6

p.P998L

c.2993C>T

Surrounding Variants

1 paper

NM_000168.6

p.A997_P998Fs

c.2990_2993delinsGCTFs

1 paper

NM_000168.6

p.P998delFs

c.2993delG

1 paper

NM_000168.6

p.P998fs

c.2992_2993fs

2 papers

NM_000168.6

p.P998_G999insTC

c.2992_2996ins6

1 paper

NM_000168.6

p.A997insFs

c.2989dupG

1 paper

NM_000168.6

p.D996N

c.2986G>A

1 paper

NM_000168.6

p.H1000H

c.3000C>T

1 paper

NM_000168.6

p.H1000delFs

c.2999delT

2 papers

NM_000168.6

p.G1001S

c.3001G>A

1 paper

NM_000168.6

p.G1001fs

c.3001_3002fs

1 paper

NM_000168.6

p.H995N

c.2983C>A

2 papers

NM_000168.6

p.G1001delFs

c.3002delC