Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E1249K

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.E1249K
c.3745G>A
Surrounding Variants
1 paper
NM_013275.6
p.A1248V
c.3743C>T
1 paper
NM_013275.6
p.H1246Y
c.3736C>T
1 paper
NM_013275.6
p.A1242_K1245del0
c.3724_3735del12
1 paper
NM_013275.6
p.S1254fs
c.3760_3761fs
1 paper
NM_013275.6
p.S1254fs
c.3760_3761fs
1 paper
NM_013275.6
p.A1242G
c.3725C>G
3 papers
NM_013275.6
p.H1256fs
c.3766_3767fs
1 paper
NM_013275.6
p.H1256fs
c.3766_3767fs
10 papers
NM_013275.6
p.K1257fs
c.3769_3770fs
4 papers
NM_013275.6
p.H1256_K1257delFs
c.3768_3769delTG
3 papers
NM_013275.6
p.K1257fs
c.3769_3770fs
2 papers
NM_013275.6
p.K1257insFs
c.3771dupA
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