Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Q645insFs

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.Q645insFs
c.1934dupA
Surrounding Variants
1 paper
NM_013275.6
p.C646fs
c.1936_1937fs
1 paper
NM_013275.6
p.Q645*
c.1933C>T
1 paper
NM_013275.6
p.C646fs
c.1936_1937fs
2 papers
NM_013275.6
p.S647Fs
c.1940_1941delinsTFs
1 paper
NM_013275.6
p.Q645_I648delFs
c.1935_1944del10
1 paper
NM_013275.6
p.K641del1
c.1921_1922delCTT
2 papers
NM_013275.6
p.Q650*
c.1948C>T
2 papers
NM_013275.6
p.K641*
c.1921A>T
1 paper
NM_013275.6
p.N640K
c.1920C>G
1 paper
NM_013275.6
p.N640_K641insFs
c.1920_1921insT
1 paper
NM_013275.6
p.N640K
c.1920C>A
1 paper
NM_013275.6
p.H638_K639del0
c.1912_1917del6
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