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.H1334insFs

c.4000_4001ins8

Surrounding Variants

1 paper

NM_000168.6

p.H1334fs

c.4000_4001fs

4 papers

NM_000168.6

p.Q1333*

c.3997C>T

1 paper

NM_000168.6

p.P1335S

c.4003C>T

1 paper

NM_000168.6

p.P1335P

c.4005G>A

5 papers

NM_000168.6

p.G1336E

c.4007G>A

1 paper

NM_000168.6

p.S1331S

c.3993C>T

1 paper

NM_000168.6

p.A1337T

c.4009G>A

1 paper

NM_000168.6

p.S1331C

c.3991A>T

1 paper

NM_000168.6

p.G1338fs

c.4012_4013fs

1 paper

NM_000168.6

p.R1339H

c.4016G>A

2 papers

NM_000168.6

p.P1340P

c.4020C>T

1 paper

NM_000168.6

p.G1341fs

c.4021_4022fs