Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018275.5

p.S448S

c.1344C>T

Surrounding Variants

NM_018275.5

p.E465_L466Splc

c.1396-4C>G

NM_018275.5

p.K493N

c.1479G>T

NM_018275.5

p.K493N

c.1479G>C

NM_018275.5

p.R507delFs

c.1519_1520delCT

NM_018275.5

p.R537H

c.1610G>A

NM_018275.5

p.R381W

c.1141C>T

NM_018275.5

p.E323fs

c.967_968fs

NM_018275.5

p.G298A

c.893G>C

NM_018275.5

p.P297S

c.889C>T

NM_018275.5

p.S292insFs

c.874_875insA

NM_018275.5

p.S246S

c.738C>G

NM_018275.5

p.E205*

c.613G>T