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.T1538A

c.4612A>G

Surrounding Variants

1 paper

NM_023037.3

p.A1541_G1542ins1

c.4623_4624insAGA

1 paper

NM_023037.3

p.T1532A

c.4594A>G

1 paper

NM_023037.3

p.E1544K

c.4630G>A

1 paper

NM_023037.3

p.N1545N

c.4635T>C

1 paper

NM_023037.3

p.F1546S

c.4637T>C

1 paper

NM_023037.3

p.A1529D

c.4586C>A

2 papers

NM_023037.3

p.E1502E

c.4506G>A

1 paper

NM_023037.3

p.I1480T

c.4439T>C

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.M1422I

c.4266G>T

1 paper

NM_023037.3

p.A1397S

c.4189G>T