Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.L1645fs

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.L1645fs
c.4933_4934fs
Surrounding Variants
1 paper
NM_013275.6
p.L1645P
c.4934T>C
3 papers
NM_013275.6
p.L1645delFs
c.4933delG
1 paper
NM_013275.6
p.L1645fs
c.4933_4934fs
1 paper
NM_013275.6
p.P1643Q
c.4928C>A
3 papers
NM_013275.6
p.P1642L
c.4925C>T
1 paper
NM_013275.6
p.K1650insFs
c.4948_4949insTA
1 paper
NM_013275.6
p.K1650fs
c.4948_4949fs
1 paper
NM_013275.6
p.K1650fs
c.4948_4949fs
1 paper
NM_013275.6
p.P1638fs
c.4912_4913fs
2 papers
NM_013275.6
p.P1638fs
c.4912_4913fs
1 paper
NM_013275.6
p.P1638S
c.4912C>T
7 papers
NM_013275.6
p.P1638A
c.4912C>G
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