Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.A2216V

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.A2216V
c.6647C>T
Surrounding Variants
1 paper
NM_013275.6
p.A2216P
c.6646G>C
1 paper
NM_013275.6
p.A2219S
c.6655G>T
1 paper
NM_013275.6
p.V2221M
c.6661G>A
1 paper
NM_013275.6
p.E2210fs
c.6628_6629fs
3 papers
NM_013275.6
p.E2210*
c.6628G>T
1 paper
NM_013275.6
p.E2210Q
c.6628G>C
2 papers
NM_013275.6
p.E2210fs
c.6628_6629fs
2 papers
NM_013275.6
p.S2208_G2209delFs
c.6624_6625delCT
1 paper
NM_013275.6
p.A2223V
c.6668C>T
3 papers
NM_013275.6
p.E2224*
c.6670G>T
4 papers
NM_013275.6
p.S2208*
c.6623C>G
4 papers
NM_013275.6
p.S2208*
c.6623C>A
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