Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001195263.2

p.Q566*

c.1696C>T

Surrounding Variants

NM_001195263.2

p.L564P

c.1691T>C

NM_001195263.2

p.Q562*

c.1684C>T

NM_001195263.2

p.R558W

c.1672C>T

NM_001195263.2

p.R557fs

c.1669_1670fs

NM_001195263.2

p.R557delFs

c.1669delG

NM_001195263.2

p.R557fs

c.1669_1670fs

NM_001195263.2

p.T578P

c.1732A>C

NM_001195263.2

p.R579H

c.1736G>A

NM_001195263.2

p.Q550*

c.1648C>T

NM_001195263.2

p.R583Q

c.1748G>A

NM_001195263.2

p.G538E

c.1613G>A

NM_001195263.2

p.D525_L533del0

c.1574_1597del24