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

3 papers

NM_000168.6

p.R1189_A1190insFs

c.3567_3568insG

Surrounding Variants

2 papers

NM_000168.6

p.R1189H

c.3566G>A

4 papers

NM_000168.6

p.A1190fs

c.3568_3569fs

2 papers

NM_000168.6

p.A1190insFs

c.3568dupG

4 papers

NM_000168.6

p.Q1187*

c.3559C>T

1 paper

NM_000168.6

p.P1186S

c.3556C>T

1 paper

NM_000168.6

p.G1180E

c.3539G>A

5 papers

NM_000168.6

p.G1180_P1181insT

c.3538_3542ins3

1 paper

NM_000168.6

p.H1200Y

c.3598C>T

9 papers

NM_000168.6

p.H1200D

c.3598C>G

2 papers

NM_000168.6

p.K1178N

c.3534G>T

3 papers

NM_000168.6

p.K1178N

c.3534G>C

1 paper

NM_000168.6

p.K1178delFs

c.3532_3533delTT