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.A957V

c.2870C>T

Surrounding Variants

1 paper

NM_032217.5

p.A951A

c.2853G>A

1 paper

NM_032217.5

p.A965T

c.2893G>A

1 paper

NM_032217.5

p.A965A

c.2895G>A

2 papers

NM_032217.5

p.A966T

c.2896G>A

1 paper

NM_032217.5

p.A966A

c.2898A>G

1 paper

NM_032217.5

p.L969insFs

c.2905_2906insCT

1 paper

NM_032217.5

p.E940G

c.2819A>G

1 paper

NM_032217.5

p.G986G

c.2958A>G

1 paper

NM_032217.5

p.G986G

c.2958A>C

1 paper

NM_032217.5

p.Y926_A927delFs

c.2776_2779del4

1 paper

NM_032217.5

p.G1001V

c.3002G>T

1 paper

NM_032217.5

p.L1003L

c.3009G>C