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.G1501R

c.4501G>C

Surrounding Variants

1 paper

NM_000168.6

p.G1501R

c.4501G>A

1 paper

NM_000168.6

p.E1500*

c.4498G>T

1 paper

NM_000168.6

p.E1500_G1501insTA

c.4498_4502ins6

6 papers

NM_000168.6

p.Q1503*

c.4507C>T

1 paper

NM_000168.6

p.Q1503Q

c.4509G>A

1 paper

NM_000168.6

p.I1504L

c.4510A>C

1 paper

NM_000168.6

p.S1493fs

c.4477_4478fs

2 papers

NM_000168.6

p.S1493delFs

c.4478delC

1 paper

NM_000168.6

p.D1507del1

c.4519_4521delATC

2 papers

NM_000168.6

p.S1493fs

c.4477_4478fs

1 paper

NM_000168.6

p.D1492D

c.4476C>T

1 paper

NM_000168.6

p.I1510L

c.4528A>T