Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001143975.1

p.L333_E335delFs

c.997_1003del7

NM_001143975.1

p.L333fs

c.997_998fs

NM_001143975.1

p.K331_G332del1

c.993_995delGGG

NM_001143975.1

p.F48S

c.143T>C

NM_001143975.1

p.N50K

c.150C>A

NM_001143975.1

p.N50K

c.150C>G

NM_001143975.1

p.I63V

c.187A>G

NM_001143975.1

p.G96R

c.286G>C

NM_001143975.1

p.G96C

c.286G>T

NM_001143975.1

p.P172H

c.515C>A

NM_001143975.1

p.M242L

c.724A>C

NM_001143975.1

p.M242L

c.724A>T