Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P2384delFs

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.P2384delFs
c.7151delG
Surrounding Variants
1 paper
NM_013275.6
p.E2375_P2384delFs
c.7124_7152del29
1 paper
NM_013275.6
p.P2384fs
c.7150_7151fs
1 paper
NM_013275.6
p.H2383Y
c.7147C>T
1 paper
NM_013275.6
p.Q2382fs
c.7144_7145fs
1 paper
NM_013275.6
p.Q2382insFs
c.7144dupC
1 paper
NM_013275.6
p.Q2382fs
c.7144_7145fs
2 papers
NM_013275.6
p.Q2382*
c.7144C>T
1 paper
NM_013275.6
p.F2389L
c.7165T>C
4 papers
NM_013275.6
p.Q2380*
c.7138C>T
1 paper
NM_013275.6
p.F2389L
c.7167T>G
1 paper
NM_013275.6
p.F2389L
c.7167T>A
1 paper
NM_013275.6
p.Q2390*
c.7168C>T
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