Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 92 variants

NM_001293298.2

p.R187C

c.559C>T

NM_001293298.2

p.R187H

c.560G>A

NM_001293298.2

p.P1169A

c.3505C>G

NM_001293298.2

p.S635F

c.1904C>T

NM_001293298.2

p.H783Y

c.2347C>T

NM_001293298.2

p.G870D

c.2609G>A

NM_001293298.2

p.R1015Q

c.3044G>A

NM_001293298.2

p.R1099H

c.3296G>A

NM_001293298.2

p.H1209Y

c.3625C>T

NM_001293298.2

p.E1320Splc

c.3958+6G>A

NM_001293298.2

p.G27E

c.80G>A

NM_001293298.2

p.S30A

c.88T>G