Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 177 variants

NM_031479.5

p.R206K

c.617G>A

NM_031479.5

p.R144*

c.430C>T

NM_031479.5

p.R18Q

c.53G>A

NM_031479.5

p.D100Splc

c.299-1G>C

NM_031479.5

p.R149S

c.447G>C

NM_031479.5

p.I290T

c.869T>C

NM_031479.5

p.H295R

c.884A>G

NM_031479.5

p.M1T

c.2T>C

NM_031479.5

p.M1R

c.2T>G

NM_031479.5

p.R18*

c.52C>T

NM_031479.5

p.Q37*

c.109C>T

NM_031479.5

p.R40*

c.118C>T