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_001374353.1

p.I260insFs

c.778_779insA

Surrounding Variants

1 paper

NM_001374353.1

p.A258V

c.773C>T

1 paper

NM_001374353.1

p.S263Y

c.788C>A

1 paper

NM_001374353.1

p.S255L

c.764C>T

1 paper

NM_001374353.1

p.R264*

c.790C>T

1 paper

NM_001374353.1

p.R264Q

c.791G>A

1 paper

NM_001374353.1

p.N254fs

c.760_761fs

1 paper

NM_001374353.1

p.S265I

c.794G>T

1 paper

NM_001374353.1

p.N254delFs

c.761delA

1 paper

NM_001374353.1

p.S266G

c.796A>G

6 papers

NM_001374353.1

p.P253S

c.757C>T

1 paper

NM_001374353.1

p.P253fs

c.757_758fs

1 paper

NM_001374353.1

p.S252*

c.755C>G