Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 44 variants

NM_001321356.2

p.T167I

c.500C>T

NM_001321356.2

p.K285E

c.853A>G

NM_001321356.2

p.H324H

c.972C>T

NM_001321356.2

p.F23_S24delFs

c.68_71del4

NM_001321356.2

p.N46N

c.138T>C

NM_001321356.2

p.R58W

c.172C>T

NM_001321356.2

p.K68N

c.204A>T

NM_001321356.2

p.K68N

c.204A>C

NM_001321356.2

p.K68_A71del4

c.202_212del12

NM_001321356.2

p.R80T

c.239G>C

NM_001321356.2

p.D85Splc

c.253+9C>T

NM_001321356.2

p.E91K

c.271G>A