Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001347995.2

p.S130L

c.389C>T

Surrounding Variants

NM_001347995.2

p.S120fs

c.358_359fs

NM_001347995.2

p.S120delFs

c.359delC

NM_001347995.2

p.G108fs

c.322_323fs

NM_001347995.2

p.L107F

c.321G>C

NM_001347995.2

p.L107F

c.321G>T

NM_001347995.2

p.L105R

c.314T>G

NM_001347995.2

p.S89C

c.266C>G

NM_001347995.2

p.A81G

c.242C>G

NM_001347995.2

p.L73L

c.219C>A

NM_001347995.2

p.A72V

c.215C>T

NM_001347995.2

p.A69_P70insFs

c.205_209dup5

NM_001347995.2

p.R47Q

c.140G>A