Varaico: Literature-Extracted Genetic Variants

GLI2

505 papers

RefSeq Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zi...

Pfam Domains

zf-C2H2_15aa 472–501UCSCC2H2 zinc finger

zf-C2H2aa 503–527UCSCZinc finger, C2H2 type

zf-C2H2aa 564–589UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLI family zinc finger 2

HGNC Alias Symbols

THP2; HPE9; THP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 736 variants

15 papers

NM_001374353.1

p.A268V

c.803C>T

9 papers

NM_001374353.1

p.E380*

c.1138G>T

7 papers

NM_001374353.1

p.V1156L

c.3466G>T

6 papers

NM_001374353.1

p.R226H

c.677G>A

6 papers

NM_001374353.1

p.P253S

c.757C>T

6 papers

NM_005270.5

p.D1520N

c.4558G>A

5 papers

NM_001374353.1

p.Y176C

c.527A>G

4 papers

NM_001374353.1

p.R374H

c.1121G>A

4 papers

NM_001374353.1

p.E544_K545Splc

c.1633-2A>C

4 papers

NM_001374353.1

p.G947D

c.2840G>A

4 papers

NM_001374353.1

p.Q1128*

c.3382C>T

4 papers

NM_001374353.1

p.P1226S

c.3676C>T