Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P2494R

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.P2494R
c.7481C>G
Surrounding Variants
6 papers
NM_013275.6
p.P2494insFs
c.7481dupC
2 papers
NM_013275.6
p.P2494T
c.7480C>A
1 paper
NM_013275.6
p.P2495fs
c.7483_7484fs
4 papers
NM_013275.6
p.P2495fs
c.7483_7484fs
1 paper
NM_013275.6
p.S2496F
c.7487C>T
2 papers
NM_013275.6
p.I2491L
c.7471A>C
2 papers
NM_013275.6
p.V2490_I2491Splc
c.7471-1G>C
1 paper
NM_013275.6
p.V2490_I2491Splc
c.7471-1G>A
2 papers
NM_013275.6
p.V2490_I2491Splc
c.7471-2A>G
1 paper
NM_013275.6
p.V2490_I2491Splc
c.7471-2A>C
1 paper
NM_013275.6
p.P2500S
c.7498C>T
1 paper
NM_013275.6
p.E2503_L2504insFs
c.7508_7511dup4
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