Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_001375484.1

p.R398W

c.1192C>T

NM_001375484.1

p.M1insFs

c.2dupT

NM_001375484.1

p.R74insFs

c.221_222insA

NM_001375484.1

p.C76_T80delFs

c.228_238del11

NM_001375484.1

p.R184*

c.550C>T

NM_001375484.1

p.V191A

c.572T>C

NM_001375484.1

p.L209F

c.625C>T

NM_001375484.1

p.I221_D222insA

c.661_665ins3

NM_001375484.1

p.M279I

c.837G>A

NM_001375484.1

p.M279I

c.837G>C

NM_001375484.1

p.M279I

c.837G>T

NM_001375484.1

p.L290P

c.869T>C