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.F2576V

c.7726T>G

Surrounding Variants

1 paper

NM_023037.3

p.N2570fs

c.7708_7709fs

1 paper

NM_023037.3

p.P2566insFs

c.7697_7698ins4

1 paper

NM_023037.3

p.K2593N

c.7779G>C

1 paper

NM_023037.3

p.K2593N

c.7779G>T

1 paper

NM_023037.3

p.A2558T

c.7672G>A

1 paper

NM_023037.3

p.P2551T

c.7651C>A

1 paper

NM_023037.3

p.H2516P

c.7547A>C

1 paper

NM_023037.3

p.S2510N

c.7529G>A

1 paper

NM_023037.3

p.S2510T

c.7529G>C

1 paper

NM_023037.3

p.C2494R

c.7480T>C

1 paper

NM_023037.3

p.L2491L

c.7473G>T

1 paper

NM_023037.3

p.R2486H

c.7457G>A