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.D571H

c.1711G>C

Surrounding Variants

1 paper

NM_023037.3

p.E573E

c.1719A>G

1 paper

NM_023037.3

p.L554_Y556del0

c.1662_1667del6

1 paper

NM_023037.3

p.M549fs

c.1645_1646fs

1 paper

NM_023037.3

p.C608Y

c.1823G>A

1 paper

NM_023037.3

p.G619_M620delFs

c.1855_1858del4

1 paper

NM_023037.3

p.Q427H

c.1281G>C

1 paper

NM_023037.3

p.Q427H

c.1281G>T

1 paper

NM_023037.3

p.C420R

c.1258T>C