Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 55 variants

NM_001300721.2

p.R720*

c.2158C>T

NM_001300721.2

p.R428fs

c.1282_1283fs

NM_001300721.2

p.R8W

c.22C>T

NM_001300721.2

p.Q87_P88del1

c.261_263delGCC

NM_001300721.2

p.P92del1

c.274_275delCCC

NM_001300721.2

p.V112F

c.334G>T

NM_001300721.2

p.L129F

c.385C>T

NM_001300721.2

p.W148R

c.442T>A

NM_001300721.2

p.V155A

c.464T>C

NM_001300721.2

p.D161N

c.481G>A

NM_001300721.2

p.N172S

c.515A>G

NM_001300721.2

p.R196H

c.587G>A