Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_001364818.2

p.E10K

c.28G>A

NM_001364818.2

p.A13V

c.38C>T

NM_001364818.2

p.V14fs

c.40_41fs

NM_001364818.2

p.R21H

c.62G>A

NM_001364818.2

p.R21fs

c.61_62fs

NM_001364818.2

p.L23R

c.68T>G

NM_001364818.2

p.P30S

c.88C>T

NM_001364818.2

p.N35I

c.104A>T

NM_001364818.2

p.R40S

c.120G>T

NM_001364818.2

p.R40S

c.120G>C

NM_001364818.2

p.R43T

c.128G>C

NM_001364818.2

p.F58delFs

c.173delA