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

2 papers

NM_005270.5

p.G1046delFs

c.3137delG

Surrounding Variants

1 paper

NM_005270.5

p.G1046fs

c.3136_3137fs

1 paper

NM_005270.5

p.G1046A

c.3137G>C

1 paper

NM_001374353.1

p.A1034fs

c.3100_3101fs

1 paper

NM_001374353.1

p.V1023_A1025del3

c.3067_3074del9

2 papers

NM_001374353.1

p.A1006A

c.3018C>T

1 paper

NM_001374353.1

p.G1005V

c.3014G>T

1 paper

NM_001374353.1

p.T998_Y1007delFs

c.2994_3021del28

1 paper

NM_001374353.1

p.E1063*

c.3187G>T

2 papers

NM_001374353.1

p.G1064G

c.3192C>T

1 paper

NM_005270.5

p.R1008_L1009delFs

c.3024_3025delCC

1 paper

NM_001374353.1

p.Y1069fs

c.3205_3206fs

1 paper

NM_001374353.1

p.N1079_R1081del0

c.3236_3241del6