Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 247 variants

NM_001375567.1

p.T1373A

c.4117A>G

NM_001375567.1

p.E298Q

c.892G>C

NM_001375567.1

p.M940L

c.2818A>T

NM_001375567.1

p.E1112A

c.3335A>C

NM_001375567.1

p.A1683T

c.5047G>A

NM_001375567.1

p.K1792N

c.5376A>C

NM_001375567.1

p.K1792N

c.5376A>T

NM_001375567.1

p.Q239*

c.715C>T

NM_001375567.1

p.K702E

c.2104A>G

NM_001375567.1

p.Y759F

c.2276A>T

NM_001375567.1

p.G792W

c.2374G>T

NM_001375567.1

p.K929fs

c.2785_2786fs