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

6 papers

NM_001374353.1

p.P253S

c.757C>T

Surrounding Variants

1 paper

NM_001374353.1

p.P253fs

c.757_758fs

1 paper

NM_001374353.1

p.S252*

c.755C>G

1 paper

NM_001374353.1

p.N254delFs

c.761delA

1 paper

NM_001374353.1

p.N254fs

c.760_761fs

1 paper

NM_001374353.1

p.S252A

c.754T>G

1 paper

NM_001374353.1

p.S252_P253insFs

c.754_757dup4

1 paper

NM_001374353.1

p.T251A

c.751A>G

1 paper

NM_001374353.1

p.S255L

c.764C>T

1 paper

NM_001374353.1

p.R250P

c.749G>C

1 paper

NM_001374353.1

p.T251del1

c.751_753delACC

1 paper

NM_001374353.1

p.A258V

c.773C>T

1 paper

NM_001374353.1

p.R247insFs

c.740dupG