Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001031721.4

p.R34*

c.100C>T

NM_001031721.4

p.A56V

c.167C>T

NM_001031721.4

p.K81N

c.243G>C

NM_001031721.4

p.K81N

c.243G>T

NM_001031721.4

p.I135R

c.404T>G

NM_001031721.4

p.H222R

c.665A>G

NM_001031721.4

p.T227fs

c.679_680fs

NM_001031721.4

p.I281delins

c.841_842delinsGC

NM_001031721.4

p.R375S

c.1123C>A

NM_001031721.4

p.K412K

c.1236G>A

NM_001031721.4

p.L415P

c.1244T>C

NM_001031721.4

p.P427S

c.1279C>T