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

1–12 of 248 variants

2 papers

NM_023037.3

p.T95insFs

c.284_285insG

2 papers

NM_023037.3

p.R278Q

c.833G>A

2 papers

NM_023037.3

p.V284_E285insG

c.850_854ins3

2 papers

NM_023037.3

p.D571H

c.1711G>C

2 papers

NM_023037.3

p.V761I

c.2281G>A

2 papers

NM_023037.3

p.L1219I

c.3655C>A

2 papers

NM_023037.3

p.G1247E

c.3740G>A

2 papers

NM_023037.3

p.L1319L

c.3957T>C

2 papers

NM_023037.3

p.E1502E

c.4506G>A

2 papers

NM_023037.3

p.K2181R

c.6542A>G

2 papers

NM_023037.3

p.T2449A

c.7345A>G

1 paper

NM_023037.3

p.A2insFs

c.5_6ins4