Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.M1427I

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
4 papers
NM_001374353.1
p.M1427I
c.4281G>A
NM_005270.5
p.M1444I
c.4332G>A
Surrounding Variants
4 papers
NM_001374353.1
p.M1427I
c.4281G>C
NM_005270.5
p.M1444I
c.4332G>C
4 papers
NM_001374353.1
p.M1427I
c.4281G>T
NM_005270.5
p.M1444I
c.4332G>T
5 papers
NM_001374353.1
p.L1428F
c.4282C>T
NM_005270.5
p.L1445F
c.4333C>T
1 paper
NM_001374353.1
p.Y1431_G1432del2
c.4291_4295del6
1 paper
NM_005270.5
p.A1439T
c.4315G>A
1 paper
NM_001374353.1
p.Q1433Q
c.4299G>A
1 paper
NM_005270.5
p.Q1450H
c.4350G>C
1 paper
NM_005270.5
p.Q1450H
c.4350G>T
1 paper
NM_005270.5
p.I1451S
c.4352T>G
1 paper
NM_005270.5
p.G1437_D1441del5
c.4309_4322del15
4 papers
NM_001374353.1
p.E1444E
c.4332G>A
1 paper
NM_001374353.1
p.E1444D
c.4332G>C
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