Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 48 variants

NM_016492.5

p.E61*

c.181G>T

NM_016492.5

p.E83D

c.249G>C

NM_016492.5

p.E83D

c.249G>T

NM_016492.5

p.P155S

c.463C>T

NM_016492.5

p.L18F

c.52C>T

NM_016492.5

p.F14S

c.41T>C

NM_016492.5

p.P30R

c.89C>G

NM_016492.5

p.V42L

c.124G>C

NM_016492.5

p.M1T

c.2T>C

NM_016492.5

p.E2insFs

c.4dupG

NM_016492.5

p.D6delFs

c.16_17delGA

NM_016492.5

p.D6fs

c.16_17fs