Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 13 variants

NM_001145268.2

p.G60A

c.179G>C

NM_001145268.2

p.Y297D

c.889T>G

NM_001145268.2

p.L15F

c.43C>T

NM_001145268.2

p.R347C

c.1039C>T

NM_001145268.2

p.R18G

c.52C>G

NM_001145268.2

p.G42R

c.124G>C

NM_001145268.2

p.A79E

c.236C>A

NM_001145268.2

p.D116fs

c.346_347fs

NM_001145268.2

p.S248L

c.743C>T

NM_001145268.2

p.D279Splc

c.835+4T>C

NM_001145268.2

p.G283A

c.848G>C

NM_001145269.2

p.Y180D

c.538T>G