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.K75E

c.223A>G

Surrounding Variants

3 papers

NM_032217.5

p.K75M

c.224A>T

1 paper

NM_032217.5

p.A74S

c.220G>T

1 paper

NM_032217.5

p.H72Q

c.216C>G

1 paper

NM_032217.5

p.H72Q

c.216C>A

1 paper

NM_032217.5

p.S88T

c.263G>C

1 paper

NM_032217.5

p.V57G

c.170T>G

1 paper

NM_032217.5

p.D93Y

c.277G>T

2 papers

NM_032217.5

p.G101_G105del0

c.303_314del12

1 paper

NM_032217.5

p.G101_G105del5

c.301_314del15

1 paper

NM_032217.5

p.V35_S42delFs

c.104_125del22

2 papers

NM_032217.5

p.G110ins0

c.328_330dupGGC

1 paper

NM_032217.5

p.E34_V35delFs

c.101_105del5