Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 133 variants

NM_005116.6

p.P411delFs

c.1233delG

NM_005116.6

p.I412fs

c.1234_1235fs

NM_005116.6

p.P411fs

c.1231_1232fs

NM_005116.6

p.M57I

c.171G>T

NM_005116.6

p.M57I

c.171G>C

NM_005116.6

p.M57I

c.171G>A

NM_005116.6

p.L111P

c.332T>C

NM_005116.6

p.R177Q

c.530G>A

NM_005116.6

p.E214_I215Splc

c.642+453G>C

NM_005116.6

p.I412L

c.1234A>C

NM_005116.6

p.I412fs

c.1234_1235fs

NM_005116.6

p.H29Q

c.87C>G