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.M1422I

c.4266G>T

Surrounding Variants

1 paper

NM_023037.3

p.M1422I

c.4266G>A

1 paper

NM_023037.3

p.M1422I

c.4266G>C

1 paper

NM_023037.3

p.A1397S

c.4189G>T

1 paper

NM_023037.3

p.G1393D

c.4178G>A

1 paper

NM_023037.3

p.S1372insFs

c.4115_4116insC

1 paper

NM_023037.3

p.T1358T

c.4074C>T

1 paper

NM_023037.3

p.G1352G

c.4056G>A

1 paper

NM_023037.3

p.S1342S

c.4026C>T

1 paper

NM_023037.3

p.I1480T

c.4439T>C

2 papers

NM_023037.3

p.E1502E

c.4506G>A

1 paper

NM_023037.3

p.A1529D

c.4586C>A

1 paper

NM_023037.3

p.T1532A

c.4594A>G