Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_005198.5

p.S234L

c.701C>T

Surrounding Variants

NM_005198.5

p.L229P

c.686T>C

NM_005198.5

p.N241S

c.722A>G

NM_005198.5

p.G246Splc

c.736+1G>T

NM_005198.5

p.I248_L249insT

c.742_746ins3

NM_005198.5

p.E255K

c.763G>A

NM_005198.5

p.E255G

c.764A>G

NM_005198.5

p.R226Splc

c.677+1G>A

NM_005198.5

p.E221A

c.662A>C

NM_005198.5

p.Y270*

c.810T>G

NM_005198.5

p.Y270*

c.810T>A

NM_005198.5

p.Y216*

c.648C>G

NM_005198.5

p.Y216*

c.648C>A