Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001127198.5

p.A590V

c.1769C>T

Surrounding Variants

NM_001127198.5

p.R583Q

c.1748G>A

NM_001127198.5

p.E576*

c.1726G>T

NM_001127198.5

p.R572Splc

c.1716-1G>A

NM_001127198.5

p.F609L

c.1825T>C

NM_001127198.5

p.F609L

c.1827C>G

NM_001127198.5

p.F609L

c.1827C>A

NM_001127198.5

p.L612_L613insFs

c.1836_1837insTC

NM_001127198.5

p.A615T

c.1843G>A

NM_001127198.5

p.Q617*

c.1849C>T

NM_001127198.5

p.V624I

c.1870G>A

NM_001127198.5

p.R572Splc

c.1715+56C>G

NM_001127198.5

p.L559_G567del9

c.1675_1700del27