Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001289401.2

p.E442K

c.1324G>A

Surrounding Variants

NM_001289401.2

p.C443S

c.1327T>A

NM_001289401.2

p.C443S

c.1328G>C

NM_001289401.2

p.R486Q

c.1457G>A

NM_001289401.2

p.R374*

c.1120C>T

NM_001289401.2

p.E519E

c.1557G>A

NM_001289401.2

p.P536delFs

c.1606_1607delCC

NM_001289401.2

p.P536fs

c.1606_1607fs

NM_001289401.2

p.S338N

c.1013G>A

NM_001289401.2

p.S560delFs

c.1678_1679delAG

NM_001289401.2

p.E597K

c.1789G>A

NM_001164530.1

p.S238R

c.714C>A

NM_001164530.1

p.S238R

c.714C>G