Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_012291.5

p.V1710_L1711delFs

c.5130_5131delGT

Surrounding Variants

NM_012291.5

p.V1710fs

c.5128_5129fs

NM_012291.5

p.R1729W

c.5185C>T

NM_012291.5

p.R1729Q

c.5186G>A

NM_012291.5

p.R1751C

c.5251C>T

NM_012291.5

p.S1768N

c.5303G>A

NM_012291.5

p.H1785N

c.5353C>A

NM_012291.5

p.E1697Q

c.5089G>C

NM_012291.5

p.E1683*

c.5047G>T

NM_012291.5

p.R1680G

c.5038A>G

NM_012291.5

p.S1678F

c.5033C>T

NM_012291.5

p.Q1674*

c.5020C>T

NM_012291.5

p.L1659_S1660insFs

c.4977_4978ins7