Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E1830*

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.E1830*
c.5488G>T
Surrounding Variants
7 papers
NM_013275.6
p.S1828*
c.5483C>A
1 paper
NM_013275.6
p.P1827insFs
c.5481dupC
3 papers
NM_013275.6
p.R1832fs
c.5494_5495fs
1 paper
NM_013275.6
p.S1828fs
c.5482_5483fs
1 paper
NM_013275.6
p.R1832fs
c.5494_5495fs
5 papers
NM_013275.6
p.R1832delFs
c.5494_5495delCT
1 paper
NM_013275.6
p.P1826A
c.5476C>G
1 paper
NM_013275.6
p.M1825fs
c.5473_5474fs
1 paper
NM_013275.6
p.L1835fs
c.5503_5504fs
1 paper
NM_013275.6
p.P1824P
c.5472C>T
1 paper
NM_013275.6
p.P1824fs
c.5470_5471fs
1 paper
NM_013275.6
p.L1835fs
c.5503_5504fs
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