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.P691L

c.2072C>T

Surrounding Variants

1 paper

NM_001330063.2

p.N699H

c.2095A>C

1 paper

NM_001330063.2

p.A679S

c.2035G>T

1 paper

NM_001330063.2

p.A704T

c.2110G>A

1 paper

NM_001330063.2

p.A662V

c.1985C>T

1 paper

NM_001330063.2

p.T657P

c.1969A>C

1 paper

NM_001330063.2

p.G720*

c.2158G>T

1 paper

NM_001330063.2

p.T624M

c.1871C>T

3 papers

NM_001330063.2

p.S620L

c.1859C>T

1 paper

NM_001330063.2

p.T573I

c.1718C>T

1 paper

NM_001330063.2

p.G761*

c.2281G>T

1 paper

NM_001330063.2

p.E765K

c.2293G>A

1 paper

NM_001330063.2

p.H555Q

c.1665T>G