Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 59 variants

NM_012168.6

p.K118T

c.353A>C

NM_012168.6

p.A45ins1

c.134_135insCGC

NM_012168.6

p.E134_G135insCGC

c.400_404ins9

NM_012168.6

p.A44_A45ins0

c.132_134dupCGC

NM_012168.6

p.L47V

c.139C>G

NM_012168.6

p.V58L

c.172G>T

NM_012168.6

p.V58L

c.172G>C

NM_012168.6

p.S155G

c.463A>G

NM_012168.6

p.G188D

c.563G>A

NM_012168.6

p.G273insFs

c.819dupG

NM_012168.6

p.Q274fs

c.820_821fs

NM_012168.6

p.E8Splc

c.22+142G>T