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

Selected Variant

1 paper

NM_005270.5

p.S836insFs

c.2508dupC

Surrounding Variants

2 papers

NM_005270.5

p.E837K

c.2509G>A

1 paper

NM_005270.5

p.R834_E837insFs

c.2502_2509dup8

1 paper

NM_005270.5

p.P846delFs

c.2537delC

1 paper

NM_005270.5

p.P846fs

c.2536_2537fs

1 paper

NM_001374353.1

p.R805C

c.2413C>T

1 paper

NM_005270.5

p.A852T

c.2554G>A

2 papers

NM_005270.5

p.V819M

c.2455G>A

1 paper

NM_005270.5

p.D856insFs

c.2566dupG

1 paper

NM_001374353.1

p.D839delFs

c.2515delG

1 paper

NM_001374353.1

p.D839fs

c.2515_2516fs

1 paper

NM_005270.5

p.S814C

c.2440A>T

2 papers

NM_001374353.1

p.S846L

c.2537C>T