Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

NM_001388465.1

p.E56A

c.167A>C

NM_001388465.1

p.R137M

c.410G>T

NM_001388465.1

p.A206V

c.617C>T

NM_001388465.1

p.A12G

c.35C>G

NM_001388465.1

p.I18del1

c.52_54delATC

NM_001388465.1

p.I20del1

c.58_59delATT

NM_001388465.1

p.H59R

c.176A>G

NM_001388465.1

p.S90N

c.269G>A

NM_001388465.1

p.Y99C

c.296A>G

NM_001388465.1

p.K121Q

c.361A>C

NM_001388465.1

p.M158I

c.474G>A

NM_001388465.1

p.M158I

c.474G>C