Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001115152.2

p.V89M

c.265G>A

NM_001115152.2

p.F170F

c.510C>T

NM_001115152.2

p.C39Y

c.116G>A

NM_001115152.2

p.A40fs

c.118_119fs

NM_001115152.2

p.A40_Y41delFs

c.118_121del4

NM_001115152.2

p.W45C

c.135G>T

NM_001115152.2

p.W45C

c.135G>C

NM_001115152.2

p.R52delFs

c.154delG

NM_001115152.2

p.R52fs

c.154_155fs

NM_001115152.2

p.S80F

c.239C>T

NM_001115152.2

p.V118_Q121del4

c.352_362del12

NM_001115152.2

p.L176P

c.527T>C