Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_001195545.2

p.G97R

c.289G>C

NM_001195545.2

p.L172V

c.514C>G

NM_001195545.2

p.V244delFs

c.730delG

NM_001195545.2

p.V244fs

c.730_731fs

NM_001195545.2

p.G40delFs

c.120delT

NM_001195545.2

p.T41fs

c.121_122fs

NM_001195545.2

p.E57K

c.169G>A

NM_001195545.2

p.T62M

c.185C>T

NM_001195545.2

p.A68G

c.203C>G

NM_001195545.2

p.L118F

c.352C>T

NM_001195545.2

p.L133L

c.399C>T

NM_001195545.2

p.A147D

c.440C>A