Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 83 variants

NM_001395430.1

p.K436M

c.1307A>T

NM_001395430.1

p.H215R

c.644A>G

NM_001395430.1

p.P52L

c.155C>T

NM_001395430.1

p.R191H

c.572G>A

NM_001395430.1

p.K221N

c.663G>C

NM_001395430.1

p.K221N

c.663G>T

NM_001395430.1

p.R258H

c.773G>A

NM_001395430.1

p.R425Q

c.1274G>A

NM_001395430.1

p.R637Q

c.1910G>A

NM_001395430.1

p.R675*

c.2023C>T

NM_001395430.1

p.K5delFs

c.13delA

NM_001395430.1

p.A14V

c.41C>T