Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_017559.4

p.S36P

c.106T>C

NM_017559.4

p.M41V

c.121A>G

NM_017559.4

p.R43Q

c.128G>A

NM_017559.4

p.P72L

c.215C>T

NM_017559.4

p.S86S

c.258C>T

NM_017559.4

p.F90F

c.270C>T

NM_017559.4

p.A101S

c.301G>T

NM_017559.4

p.G112fs

c.334_335fs

NM_017559.4

p.T181N

c.542C>A

NM_017559.4

p.H187_T188delFs

c.561_564del4

NM_017559.4

p.V195_I196Splc

c.585+4C>T

NM_017559.4

p.W198*

c.593G>A