Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K635_H636delFs

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
66 papers
NM_013275.6
p.K635_H636delFs
c.1903_1907del5
Surrounding Variants
1 paper
NM_013275.6
p.H636fs
c.1906_1907fs
1 paper
NM_013275.6
p.T634_H636del0
c.1902_1907del6
1 paper
NM_013275.6
p.K637*
c.1909A>T
1 paper
NM_013275.6
p.T634_K635delFs
c.1902_1905del4
2 papers
NM_013275.6
p.H636_K637delFs
c.1908_1909delTG
12 papers
NM_013275.6
p.K635fs
c.1903_1904fs
1 paper
NM_013275.6
p.H638fs
c.1912_1913fs
35 papers
NM_013275.6
p.K635fs
c.1903_1904fs
1 paper
NM_013275.6
p.T634fs
c.1900_1901fs
1 paper
NM_013275.6
p.H638_K639delFs
c.1914_1915delTG
2 papers
NM_013275.6
p.H632_K633delFs
c.1896_1897delTA
1 paper
NM_013275.6
p.H638_K639del0
c.1912_1917del6
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