Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 49 variants

NM_001290047.2

p.R293H

c.878G>A

NM_001290047.2

p.A24delFs

c.70delG

NM_001290047.2

p.P75A

c.223C>G

NM_001290047.2

p.P75_Q76delFs

c.224_227del4

NM_001290047.2

p.S104N

c.311G>A

NM_001290047.2

p.E115Fs

c.345delinsCCTFs

NM_001290047.2

p.K173E

c.517A>G

NM_001290047.2

p.E213*

c.637G>T

NM_001290047.2

p.E218K

c.652G>A

NM_001290047.2

p.S224_S227del4

c.670_680del12

NM_001290047.2

p.T249P

c.745A>C

NM_001290047.2

p.M286I

c.858G>A