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.P608L

c.1823C>T

Surrounding Variants

1 paper

NM_005270.5

p.D615delFs

c.1844delA

1 paper

NM_005270.5

p.N601_D602del1

c.1802_1804delATG

1 paper

NM_001374353.1

p.T603_E604insFs

c.1807_1810dup4

1 paper

NM_001374353.1

p.T579_R583Fs

c.1737_1747delinsAACAGGAFs

2 papers

NM_005270.5

p.T620M

c.1859C>T

NM_001374353.1

p.T603M

c.1808C>T

1 paper

NM_001371271.1

p.A593V

c.1778C>T

2 papers

NM_001374353.1

p.P608L

c.1823C>T

2 papers

NM_001371271.1

p.E629K

c.1885G>A

1 paper

NM_005270.5

p.T587T

c.1761G>A

1 paper

NM_005270.5

p.T587M

c.1760C>T

1 paper

NM_001374353.1

p.S614_S615insC

c.1840_1844ins3

1 paper

NM_001374353.1

p.H567Y

c.1699C>T