Varaico: Literature-Extracted Genetic Variants

ANKRD17

143 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repe...

Pfam Domains

Ank_2aa 238–331UCSCAnkyrin repeats (3 copies)

Ank_2aa 323–397UCSCAnkyrin repeats (3 copies)

Ank_2aa 390–464UCSCAnkyrin repeats (3 copies)

Ank_2aa 462–530UCSCAnkyrin repeats (3 copies)

Ank_2aa 528–594UCSCAnkyrin repeats (3 copies)

Ank_2aa 568–660UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 17

HGNC Alias Symbols

GTAR; KIAA0697; FLJ22206; NY-BR-16; MASK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032217.5

p.E214K

c.640G>A

Surrounding Variants

1 paper

NM_032217.5

p.A211V

c.632C>T

1 paper

NM_032217.5

p.T205T

c.615A>G

3 papers

NM_032217.5

p.A224T

c.670G>A

1 paper

NM_032217.5

p.N235Splc

c.704+1G>A

1 paper

NM_032217.5

p.L238_A239delins

c.714_716delinsAAT

1 paper

NM_032217.5

p.T264A

c.790A>G

2 papers

NM_032217.5

p.G278V

c.833G>T

1 paper

NM_032217.5

p.P304H

c.911C>A

1 paper

NM_032217.5

p.A307S

c.919G>T

2 papers

NM_032217.5

p.T303_V314del12

c.907_941del36

1 paper

NM_032217.5

p.V317A

c.950T>C

1 paper

NM_032217.5

p.S332L

c.995C>T