Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 179 variants

NM_012144.4

p.M1insFs

c.2_3insT

NM_012144.4

p.G515S

c.1543G>A

NM_012144.4

p.A538T

c.1612G>A

NM_012144.4

p.W548*

c.1644G>A

NM_012144.4

p.G130Splc

c.389-1G>C

NM_012144.4

p.V335I

c.1003G>A

NM_012144.4

p.A8S

c.22G>T

NM_012144.4

p.W340Splc

c.1019+5G>C

NM_012144.4

p.W548*

c.1643G>A

NM_012144.4

p.M1_I2insFs

c.3_4insT

NM_012144.4

p.A60A

c.180G>A

NM_012144.4

p.C388Y

c.1163G>A