Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.T1229M

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
2 papers
NM_013275.6
p.T1229M
c.3686C>T
Surrounding Variants
1 paper
NM_013275.6
p.D1231fs
c.3691_3692fs
1 paper
NM_013275.6
p.D1231fs
c.3691_3692fs
1 paper
NM_013275.6
p.N1234S
c.3701A>G
5 papers
NM_013275.6
p.K1235fs
c.3703_3704fs
1 paper
NM_013275.6
p.K1235fs
c.3703_3704fs
3 papers
NM_013275.6
p.Q1236*
c.3706C>T
2 papers
NM_013275.6
p.N1234_K1235delFs
c.3702_3705del4
1 paper
NM_013275.6
p.Q1236H
c.3708G>T
1 paper
NM_013275.6
p.Q1236H
c.3708G>C
1 paper
NM_013275.6
p.Q1236Q
c.3708G>A
7 papers
NM_013275.6
p.K1235_Q1236delFs
c.3704_3707del4
1 paper
NM_013275.6
p.K1237fs
c.3709_3710fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."