Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018989.2

p.G348D

c.1043G>A

Surrounding Variants

NM_018989.2

p.P349T

c.1045C>A

NM_018989.2

p.G348_G356ins3

c.1044_1067dup24

NM_018989.2

p.P337_G344del8

c.1009_1031del24

NM_018989.2

p.V376I

c.1126G>A

NM_018989.2

p.L273P

c.818T>C

NM_018989.2

p.E254K

c.760G>A

NM_018989.2

p.T241N

c.722C>A

NM_018989.2

p.E197Splc

c.590-2A>C

NM_018989.2

p.P403P

c.1209C>T

NM_018989.2

p.R190Q

c.569G>A

NM_018989.2

p.R184G

c.550A>G

NM_018989.2

p.R427Splc

c.1279+7A>G