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.M1220_T1221insT

c.3658_3662ins3

Surrounding Variants

1 paper

NM_001374353.1

p.C1217R

c.3649T>C

1 paper

NM_001374353.1

p.T1223insFs

c.3668_3669insG

2 papers

NM_005270.5

p.M1241I

c.3723G>A

2 papers

NM_005270.5

p.M1241I

c.3723G>C

2 papers

NM_005270.5

p.M1241I

c.3723G>T

4 papers

NM_001374353.1

p.P1226S

c.3676C>T

3 papers

NM_001371271.1

p.P1243L

c.3728C>T

NM_001374353.1

p.P1226L

c.3677C>T

1 paper

NM_001374353.1

p.A1228T

c.3682G>A

2 papers

NM_005270.5

p.Q1227*

c.3679C>T

NM_001374353.1

p.Q1210*

c.3628C>T

1 paper

NM_005270.5

p.R1226Q

c.3677G>A

1 paper

NM_001374353.1

p.R1209L

c.3626G>T

1 paper

NM_001371271.1

p.R1226*

c.3676C>T