Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.M2166R

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.M2166R
c.6497T>G
Surrounding Variants
1 paper
NM_013275.6
p.P2168delFs
c.6504delT
1 paper
NM_013275.6
p.A2170fs
c.6508_6509fs
7 papers
NM_013275.6
p.P2171insFs
c.6513dupC
2 papers
NM_013275.6
p.G2172fs
c.6514_6515fs
3 papers
NM_013275.6
p.P2171delFs
c.6513delG
2 papers
NM_013275.6
p.G2172fs
c.6514_6515fs
1 paper
NM_013275.6
p.V2173fs
c.6517_6518fs
1 paper
NM_013275.6
p.V2173fs
c.6517_6518fs
10 papers
NM_013275.6
p.E2158*
c.6472G>T
1 paper
NM_013275.6
p.E2158fs
c.6472_6473fs
1 paper
NM_013275.6
p.E2157fs
c.6469_6470fs
2 papers
NM_013275.6
p.E2157delFs
c.6469delC
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