Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_030802.4

p.T364A

c.1090A>G

NM_030802.4

p.G35D

c.104G>A

NM_030802.4

p.R38R

c.114G>T

NM_030802.4

p.L41Q

c.122T>A

NM_030802.4

p.R88L

c.263G>T

NM_030802.4

p.R169C

c.505C>T

NM_030802.4

p.A192V

c.575C>T

NM_030802.4

p.L214L

c.642G>A

NM_030802.4

p.K227fs

c.679_680fs

NM_030802.4

p.G230R

c.688G>C

NM_030802.4

p.G230R

c.688G>A

NM_030802.4

p.A292A

c.876C>T