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.E2083D

c.6249A>T

Surrounding Variants

1 paper

NM_023037.3

p.E2083D

c.6249A>C

1 paper

NM_023037.3

p.R2082Q

c.6245G>A

1 paper

NM_023037.3

p.G2099W

c.6295G>T

1 paper

NM_023037.3

p.L2067F

c.6201G>C

1 paper

NM_023037.3

p.L2067F

c.6201G>T

1 paper

NM_023037.3

p.K2106*

c.6316A>T

1 paper

NM_023037.3

p.T2048A

c.6142A>G

1 paper

NM_023037.3

p.R2019K

c.6056G>A

1 paper

NM_023037.3

p.T2018A

c.6052A>G

1 paper

NM_023037.3

p.D2004G

c.6011A>G

1 paper

NM_023037.3

p.R1980Q

c.5939G>A

1 paper

NM_023037.3

p.R1975W

c.5923C>T