Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E1687Q

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.E1687Q
c.5059G>C
Surrounding Variants
1 paper
NM_013275.6
p.K1686E
c.5056A>G
1 paper
NM_013275.6
p.M1685delFs
c.5053delT
1 paper
NM_013275.6
p.L1689fs
c.5065_5066fs
1 paper
NM_013275.6
p.L1689delFs
c.5065delG
1 paper
NM_013275.6
p.L1689fs
c.5065_5066fs
2 papers
NM_013275.6
p.P1690L
c.5069C>T
1 paper
NM_013275.6
p.A1691V
c.5072C>T
1 paper
NM_013275.6
p.L1680L
c.5038C>T
1 paper
NM_013275.6
p.D1678N
c.5032G>A
1 paper
NM_013275.6
p.K1677delFs
c.5030_5031delTT
1 paper
NM_013275.6
p.K1677fs
c.5029_5030fs
3 papers
NM_013275.6
p.D1696E
c.5088C>G
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