Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S2051insFs

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.S2051insFs
c.6152dupC
Surrounding Variants
1 paper
NM_013275.6
p.E2052fs
c.6154_6155fs
1 paper
NM_013275.6
p.S2051L
c.6152C>T
1 paper
NM_013275.6
p.E2052fs
c.6154_6155fs
1 paper
NM_013275.6
p.A2053T
c.6157G>A
1 paper
NM_013275.6
p.T2050N
c.6149C>A
1 paper
NM_013275.6
p.A2053V
c.6158C>T
1 paper
NM_013275.6
p.T2050A
c.6148A>G
1 paper
NM_013275.6
p.A2047_I2048del2
c.6139_6143del6
2 papers
NM_013275.6
p.A2053_A2054delFs
c.6159_6162del4
1 paper
NM_013275.6
p.A2047fs
c.6139_6140fs
1 paper
NM_013275.6
p.P2055delFs
c.6165delG
1 paper
NM_013275.6
p.A2054_P2055del2
c.6160_6164del6
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