Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.A2301P

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.A2301P
c.6901G>C
Surrounding Variants
5 papers
NM_013275.6
p.S2297_A2300del4
c.6889_6899del12
1 paper
NM_013275.6
p.A2300V
c.6899C>T
2 papers
NM_013275.6
p.A2300S
c.6898G>T
2 papers
NM_013275.6
p.A2299V
c.6896C>T
2 papers
NM_013275.6
p.R2298L
c.6893G>T
1 paper
NM_013275.6
p.R2298H
c.6893G>A
1 paper
NM_013275.6
p.E2304fs
c.6910_6911fs
1 paper
NM_013275.6
p.E2295fs
c.6883_6884fs
1 paper
NM_013275.6
p.P2306fs
c.6916_6917fs
2 papers
NM_013275.6
p.T2294_E2295delFs
c.6882_6883delCA
1 paper
NM_013275.6
p.E2295fs
c.6883_6884fs
2 papers
NM_013275.6
p.P2307S
c.6919C>T
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