Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_182649.2

p.P129_E130Splc

c.388-1G>A

Surrounding Variants

NM_182649.2

p.E130Q

c.388G>C

NM_182649.2

p.E130K

c.388G>A

NM_182649.2

p.P129_E130Splc

c.388-2A>G

NM_182649.2

p.E130A

c.389A>C

NM_182649.2

p.Q131E

c.391C>G

NM_182649.2

p.Q131_E132insA

c.391_395ins3

NM_182649.2

p.Q131K

c.391C>A

NM_182649.2

p.E132Q

c.394G>C

NM_182649.2

p.Y133F

c.398A>T

NM_182649.2

p.S134C

c.400A>T

NM_182649.2

p.S134delFs

c.402delG

NM_182649.2

p.C135Y

c.404G>A