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.G424G

c.1272C>G

Surrounding Variants

2 papers

NM_032217.5

p.R418*

c.1252C>T

1 paper

NM_032217.5

p.D432G

c.1295A>G

1 paper

NM_032217.5

p.E402V

c.1205A>T

1 paper

NM_032217.5

p.N394I

c.1181A>T

1 paper

NM_032217.5

p.E448V

c.1343A>T

1 paper

NM_032217.5

p.G390V

c.1169G>T

1 paper

NM_032217.5

p.N389N

c.1167T>C

1 paper

NM_032217.5

p.A377T

c.1129G>A

1 paper

NM_032217.5

p.P470S

c.1408C>T

1 paper

NM_032217.5

p.P370L

c.1109C>T

1 paper

NM_032217.5

p.G367G

c.1101T>G

1 paper

NM_032217.5

p.E365K

c.1093G>A