Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_020706.2

p.V383L

c.1147G>C

Surrounding Variants

NM_020706.2

p.V383L

c.1147G>T

NM_020706.2

p.Q399H

c.1197G>T

NM_020706.2

p.Q399H

c.1197G>C

NM_020706.2

p.E413fs

c.1237_1238fs

NM_020706.2

p.E417Q

c.1249G>C

NM_020706.2

p.E423A

c.1268A>C

NM_020706.2

p.R426*

c.1276C>T

NM_020706.2

p.M428fs

c.1282_1283fs

NM_020706.2

p.M428delFs

c.1282_1283delAT

NM_020706.2

p.R432fs

c.1294_1295fs

NM_020706.2

p.R432delFs

c.1295_1296delTC

NM_020706.2

p.S434*

c.1301C>A