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.M1123delFs

c.3369delG

Surrounding Variants

1 paper

NM_005270.5

p.M1123fs

c.3367_3368fs

1 paper

NM_005270.5

p.M1123fs

c.3367_3368fs

1 paper

NM_005270.5

p.A1113V

c.3338C>T

1 paper

NM_001374353.1

p.A1116A

c.3348G>A

1 paper

NM_001374353.1

p.P1117P

c.3351C>A

1 paper

NM_001374353.1

p.L1120_K1122delFs

c.3359_3366del8

1 paper

NM_005270.5

p.R1108L

c.3323G>T

1 paper

NM_001374353.1

p.G1086R

c.3256G>A

4 papers

NM_001374353.1

p.Q1128*

c.3382C>T

1 paper

NM_001374353.1

p.N1130_E1131insFs

c.3390_3391insAA

1 paper

NM_001374353.1

p.V1132A

c.3395T>C

1 paper

NM_001374353.1

p.N1079_R1081del0

c.3236_3241del6