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.T2449A

c.7345A>G

Surrounding Variants

1 paper

NM_023037.3

p.S2451C

c.7351A>T

1 paper

NM_023037.3

p.E2346G

c.7037A>G

1 paper

NM_023037.3

p.I2340L

c.7018A>C

1 paper

NM_023037.3

p.R2314*

c.6940C>T

1 paper

NM_023037.3

p.R2293W

c.6877C>T

1 paper

NM_023037.3

p.R2486H

c.7457G>A

1 paper

NM_023037.3

p.L2491L

c.7473G>T

1 paper

NM_023037.3

p.C2494R

c.7480T>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.H2516P

c.7547A>C

1 paper

NM_023037.3

p.P2551T

c.7651C>A