Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

NM_001387751.1

p.S92fs

c.274_275fs

NM_001387751.1

p.P94fs

c.280_281fs

NM_001387751.1

p.P121L

c.362C>T

NM_001387751.1

p.Q7H

c.21A>C

NM_001387751.1

p.P17A

c.49C>G

NM_001387751.1

p.S18F

c.53C>T

NM_001387751.1

p.R19Q

c.56G>A

NM_001387751.1

p.S29R

c.85A>C

NM_001387751.1

p.I53I

c.159C>A

NM_001387751.1

p.E57E

c.171G>A

NM_001387751.1

p.H67Y

c.199C>T

NM_001387751.1

p.E77A

c.230A>C