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

2 papers

NM_023037.3

p.R278Q

c.833G>A

Surrounding Variants

1 paper

NM_023037.3

p.M274I

c.822G>C

2 papers

NM_023037.3

p.V284_E285insG

c.850_854ins3

1 paper

NM_023037.3

p.S290S

c.870T>G

1 paper

NM_023037.3

p.N260S

c.779A>G

1 paper

NM_023037.3

p.R255P

c.764G>C

1 paper

NM_023037.3

p.L254L

c.760T>C

1 paper

NM_023037.3

p.E253K

c.757G>A

1 paper

NM_023037.3

p.E253Q

c.757G>C

1 paper

NM_023037.3

p.E253*

c.757G>T

1 paper

NM_023037.3

p.K244N

c.732G>C

1 paper

NM_023037.3

p.Q295_E296Splc

c.886-1G>A

1 paper

NM_023037.3

p.E303A

c.908A>C