Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001384763.1

p.P102delFs

c.304delG

NM_001384763.1

p.V129A

c.386T>C

NM_001384763.1

p.G151Splc

c.453-44G>A

NM_001384763.1

p.Q168delins

c.503_504delinsAT

NM_001384763.1

p.G186D

c.557G>A

NM_001384763.1

p.S191P

c.571T>C

NM_001384763.1

p.P211P

c.633C>A

NM_001384763.1

p.R285H

c.854G>A

NM_001384763.1

p.L289L

c.867G>C

NM_001384763.1

p.L331L

c.993C>T

NM_001384763.1

p.L395L

c.1183C>T