Varaico: Literature-Extracted Genetic Variants

FRY

13q13.1 (UCSC)OMIM PanelApp GTEx

178 papers

Pfam Domains

MOR2-PAG1_Naa 165–697UCSCCell morphogenesis N-terminal

MOR2-PAG1_midaa 1192–1376UCSCCell morphogenesis central region

MOR2-PAG1_midaa 1632–1705UCSCCell morphogenesis central region

MOR2-PAG1_midaa 1771–1906UCSCCell morphogenesis central region

MOR2-PAG1_Caa 2042–2295UCSCCell morphogenesis C-terminal

Fry_Caa 2319–3016UCSCFurry protein C-terminal

Gene Aliases

HGNC Name

FRY microtubule binding protein

HGNC Previous Symbol

C13orf14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023037.3

p.N917K

c.2751T>G

Surrounding Variants

1 paper

NM_023037.3

p.N917K

c.2751T>A

1 paper

NM_023037.3

p.L921I

c.2761C>A

1 paper

NM_023037.3

p.P889delFs

c.2666_2667delCT

1 paper

NM_023037.3

p.A876D

c.2627C>A

1 paper

NM_023037.3

p.L860P

c.2579T>C

1 paper

NM_023037.3

p.V827F

c.2479G>T

1 paper

NM_023037.3

p.P811Q

c.2432C>A

1 paper

NM_023037.3

p.K957_A958Splc

c.2872-2A>G

1 paper

NM_023037.3

p.L971M

c.2911T>A

1 paper

NM_023037.3

p.I980V

c.2938A>G

1 paper

NM_023037.3

p.E981Q

c.2941G>C

1 paper

NM_023037.3

p.E1003Q

c.3007G>C