Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E1717V

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
1 paper
NM_013275.6
p.E1717V
c.5150A>T
Surrounding Variants
3 papers
NM_013275.6
p.E1716*
c.5146G>T
7 papers
NM_013275.6
p.Y1715*
c.5145C>G
2 papers
NM_013275.6
p.Y1715insFs
c.5144dupA
7 papers
NM_013275.6
p.Y1715*
c.5145C>A
2 papers
NM_013275.6
p.M1719R
c.5156T>G
1 paper
NM_013275.6
p.H1720N
c.5158C>A
1 paper
NM_013275.6
p.H1720Q
c.5160C>G
1 paper
NM_013275.6
p.H1720Q
c.5160C>A
2 papers
NM_013275.6
p.T1721M
c.5162C>T
1 paper
NM_013275.6
p.S1708_S1711del4
c.5122_5132del12
1 paper
NM_013275.6
p.C1712G
c.5134T>G
1 paper
NM_013275.6
p.L1710insFs
c.5130dupA
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