Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E1802Q

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
2 papers
NM_013275.6
p.E1802Q
c.5404G>C
Surrounding Variants
1 paper
NM_013275.6
p.E1802K
c.5404G>A
1 paper
NM_013275.6
p.E1801K
c.5401G>A
2 papers
NM_013275.6
p.P1799insFs
c.5397dupC
2 papers
NM_013275.6
p.E1800fs
c.5398_5399fs
1 paper
NM_013275.6
p.S1804R
c.5410A>C
1 paper
NM_013275.6
p.S1804R
c.5412C>G
1 paper
NM_013275.6
p.S1804R
c.5412C>A
1 paper
NM_013275.6
p.V1805F
c.5413G>T
1 paper
NM_013275.6
p.V1805I
c.5413G>A
2 papers
NM_013275.6
p.G1806R
c.5416G>C
2 papers
NM_013275.6
p.G1806R
c.5416G>A
1 paper
NM_013275.6
p.G1806E
c.5417G>A
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