Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.F2102L

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.F2102L
c.6306C>G
Surrounding Variants
1 paper
NM_013275.6
p.F2102L
c.6306C>A
1 paper
NM_013275.6
p.F2102Y
c.6305T>A
1 paper
NM_013275.6
p.F2102L
c.6304T>C
1 paper
NM_013275.6
p.N2100fs
c.6298_6299fs
1 paper
NM_013275.6
p.G2105D
c.6314G>A
1 paper
NM_013275.6
p.R2107insFs
c.6320dupG
1 paper
NM_013275.6
p.P2097fs
c.6289_6290fs
1 paper
NM_013275.6
p.G2108fs
c.6322_6323fs
1 paper
NM_013275.6
p.G2108D
c.6323G>A
2 papers
NM_013275.6
p.V2092_G2096del5
c.6274_6287del15
1 paper
NM_013275.6
p.G2108fs
c.6322_6323fs
1 paper
NM_013275.6
p.L2095V
c.6283C>G
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