Varaico: Literature-Extracted Genetic Variants

ANKFY1

65 papers

RefSeq Summary

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. ...

Pfam Domains

BTBaa 58–160UCSCBTB/POZ domain

Ank_4aa 260–309UCSCAnkyrin repeats (many copies)

Ank_2aa 338–418UCSCAnkyrin repeats (3 copies)

Ank_2aa 432–521UCSCAnkyrin repeats (3 copies)

Ankaa 542–575UCSCAnkyrin repeat

Ank_2aa 593–685UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and FYVE domain containing 1

HGNC Alias Symbols

ANKHZN; KIAA1255; ZFYVE14; BTBD23; RANK-5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330063.2

p.K43E

c.127A>G

Surrounding Variants

1 paper

NM_001330063.2

p.N42K

c.126C>G

1 paper

NM_001330063.2

p.N42K

c.126C>A

1 paper

NM_001330063.2

p.A39T

c.115G>A

1 paper

NM_001257999.3

p.R95L

c.284G>T

1 paper

NM_001330063.2

p.L55Q

c.164T>A

1 paper

NM_001330063.2

p.Q64*

c.190C>T

1 paper

NM_001330063.2

p.L16V

c.46C>G

1 paper

NM_001330063.2

p.K11N

c.33G>T

1 paper

NM_001330063.2

p.K11N

c.33G>C

1 paper

NM_001330063.2

p.K73*

c.217A>T

1 paper

NM_001330063.2

p.S92R

c.274A>C

1 paper

NM_001330063.2

p.S92R

c.276C>G