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.G1247E

c.3740G>A

Surrounding Variants

1 paper

NM_023037.3

p.G1247R

c.3739G>A

1 paper

NM_023037.3

p.G1247R

c.3739G>C

1 paper

NM_023037.3

p.F1239F

c.3717C>T

2 papers

NM_023037.3

p.L1219I

c.3655C>A

1 paper

NM_023037.3

p.R1197*

c.3589C>T

1 paper

NM_023037.3

p.L1183V

c.3547C>G

1 paper

NM_023037.3

p.I1255V

c.3763A>G

1 paper

NM_023037.3

p.V1256V

c.3768G>T

1 paper

NM_023037.3

p.N1260N

c.3780C>T

1 paper

NM_023037.3

p.A1266A

c.3798C>T

1 paper

NM_023037.3

p.K1160_A1161Splc

c.3480+1G>T

1 paper

NM_023037.3

p.A1158S

c.3472G>T