Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 435 variants

NM_147127.5

p.R399*

c.1195C>T

NM_147127.5

p.R826*

c.2476C>T

NM_147127.5

p.R885*

c.2653C>T

NM_147127.5

p.L1265delFs

c.3793delG

NM_147127.5

p.Q570*

c.1708C>T

NM_147127.5

p.S1220delFs

c.3660delG

NM_147127.5

p.L150_Y151Splc

c.450+2T>C

NM_147127.5

p.W828*

c.2484G>A

NM_147127.5

p.Q1089*

c.3265C>T

NM_147127.5

p.V236Splc

c.707-2A>G

NM_147127.5

p.I283R

c.848T>G

NM_147127.5

p.K327delFs

c.981delC