Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001243007.2

p.S498F

c.1493C>T

Surrounding Variants

NM_001243007.2

p.Q501*

c.1501C>T

NM_001243007.2

p.Q501fs

c.1501_1502fs

NM_001243007.2

p.R474H

c.1421G>A

NM_001243007.2

p.S459G

c.1375A>G

NM_001243007.2

p.R456*

c.1366C>T

NM_001243007.2

p.I436V

c.1306A>G

NM_001243007.2

p.E583Q

c.1747G>C

NM_001243007.2

p.H435_I436Splc

c.1305+1A>G

NM_001243007.2

p.L412F

c.1234C>T

NM_001243007.2

p.R383K

c.1148G>A

NM_001243007.2

p.P373S

c.1117C>T

NM_001243007.2

p.R353T

c.1058G>C