Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K2038E

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
4 papers
NM_013275.6
p.K2038E
c.6112A>G
Surrounding Variants
1 paper
NM_013275.6
p.K2038T
c.6113A>C
1 paper
NM_013275.6
p.G2040R
c.6118G>C
1 paper
NM_013275.6
p.G2040R
c.6118G>A
1 paper
NM_013275.6
p.D2036N
c.6106G>A
1 paper
NM_013275.6
p.G2040fs
c.6118_6119fs
1 paper
NM_013275.6
p.V2041G
c.6122T>G
1 paper
NM_013275.6
p.L2034fs
c.6100_6101fs
3 papers
NM_013275.6
p.D2042G
c.6125A>G
1 paper
NM_013275.6
p.G2040_D2042delFs
c.6118_6125del8
1 paper
NM_013275.6
p.A2043T
c.6127G>A
1 paper
NM_013275.6
p.A2043V
c.6128C>T
2 papers
NM_013275.6
p.P2032L
c.6095C>T
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