Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 822 variants

NM_000041.4

p.C130R

c.388T>C

NM_000041.4

p.R176C

c.526C>T

NM_000041.4

p.K164M

c.491A>T

NM_000041.4

p.Q73H

c.219G>T

NM_000041.4

p.L167del1

c.499_500delCTC

NM_000041.4

p.L46P

c.137T>C

NM_000041.4

p.R154S

c.460C>A

NM_000041.4

p.R163C

c.487C>T

NM_000041.4

p.W38S

c.113G>C

NM_000041.4

p.S112P

c.334T>C

NM_000041.4

p.R43C

c.127C>T

NM_000041.4

p.G145D

c.434G>A