Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P2317L

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.P2317L
c.6950C>T
Surrounding Variants
1 paper
NM_013275.6
p.P2306_A2314delFs
c.6917_6942del26
1 paper
NM_013275.6
p.T2320K
c.6959C>A
1 paper
NM_013275.6
p.E2322K
c.6964G>A
4 papers
NM_013275.6
p.A2323fs
c.6967_6968fs
1 paper
NM_013275.6
p.Q2311R
c.6932A>G
1 paper
NM_013275.6
p.A2323fs
c.6967_6968fs
1 paper
NM_013275.6
p.P2324A
c.6970C>G
1 paper
NM_013275.6
p.I2310fs
c.6928_6929fs
1 paper
NM_013275.6
p.I2310F
c.6928A>T
1 paper
NM_013275.6
p.K2325R
c.6974A>G
1 paper
NM_013275.6
p.K2325_A2326insFs
c.6975_6976ins8
1 paper
NM_013275.6
p.A2323_K2325insFs
c.6968_6975dup8
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