Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.V2329L

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.V2329L
c.6985G>T
Surrounding Variants
1 paper
NM_013275.6
p.V2329L
c.6985G>C
1 paper
NM_013275.6
p.V2329M
c.6985G>A
1 paper
NM_013275.6
p.R2328fs
c.6982_6983fs
2 papers
NM_013275.6
p.R2328insFs
c.6982dupC
2 papers
NM_013275.6
p.R2328*
c.6982C>T
1 paper
NM_013275.6
p.R2328G
c.6982C>G
2 papers
NM_013275.6
p.R2328fs
c.6982_6983fs
1 paper
NM_013275.6
p.A2326fs
c.6976_6977fs
1 paper
NM_013275.6
p.A2326V
c.6977C>T
1 paper
NM_013275.6
p.A2326G
c.6977C>G
1 paper
NM_013275.6
p.A2326D
c.6977C>A
1 paper
NM_013275.6
p.A2323_K2325insFs
c.6968_6975dup8
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