Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 14 variants

NM_001395467.1

p.C60S

c.178T>A

NM_001395467.1

p.C60S

c.179G>C

NM_001395467.1

p.H13R

c.38A>G

NM_001395467.1

p.E18D

c.54A>T

NM_001395467.1

p.A54T

c.160G>A

NM_001395467.1

p.K92_V93Splc

c.277-1G>A

NM_001395467.1

p.V93G

c.278T>G

NM_001395467.1

p.M97I

c.291G>A

NM_001395467.1

p.M97I

c.291G>C

NM_001395467.1

p.M97I

c.291G>T

NM_001395467.1

p.S151L

c.452C>T

NM_001395467.1

p.Q177*

c.529C>T