Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.L1903_L1907del5

ANKRD11

679 papers

RefSeq Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome...

Pfam Domains

Ank_2aa 145–231UCSCAnkyrin repeats (3 copies)
Ank_2aa 228–293UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain containing 11

HGNC Alias Symbols

LZ16; T13; ANCO1; ANCO-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
51 papers
NM_013275.6
p.L1903_L1907del5
c.5707_5720del15
Surrounding Variants
1 paper
NM_013275.6
p.S1902_L1907del6
c.5704_5720del18
1 paper
NM_013275.6
p.P1909L
c.5726C>T
2 papers
NM_013275.6
p.P1908_P1909del2
c.5722_5726del6
1 paper
NM_013275.6
p.A1906T
c.5716G>A
1 paper
NM_013275.6
p.S1902_G1905del4
c.5704_5714del12
1 paper
NM_013275.6
p.G1905fs
c.5713_5714fs
1 paper
NM_013275.6
p.G1905fs
c.5713_5714fs
3 papers
NM_013275.6
p.E1904_G1905insFs
c.5712_5713insT
1 paper
NM_013275.6
p.T1913N
c.5738C>A
1 paper
NM_013275.6
p.S1914F
c.5741C>T
1 paper
NM_013275.6
p.E1897_P1901del5
c.5689_5702del15
1 paper
NM_013275.6
p.E1915fs
c.5743_5744fs
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