Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.T1874fs

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.T1874fs
c.5620_5621fs
Surrounding Variants
1 paper
NM_013275.6
p.T1874insFs
c.5620dupA
1 paper
NM_013275.6
p.T1876P
c.5626A>C
1 paper
NM_013275.6
p.P1877S
c.5629C>T
1 paper
NM_013275.6
p.V1872I
c.5614G>A
2 papers
NM_013275.6
p.S1878P
c.5632T>C
1 paper
NM_013275.6
p.S1878Y
c.5633C>A
1 paper
NM_013275.6
p.A1870V
c.5609C>T
1 paper
NM_013275.6
p.P1879T
c.5635C>A
1 paper
NM_013275.6
p.P1879L
c.5636C>T
1 paper
NM_013275.6
p.P1879insFs
c.5637dupA
1 paper
NM_013275.6
p.E1880fs
c.5638_5639fs
1 paper
NM_013275.6
p.E1880fs
c.5638_5639fs
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