Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001164496.2

p.Q1791_G1792Splc

c.5373+737C>T

Surrounding Variants

NM_001164496.2

p.Q1791_G1792Splc

c.5373+560T>C

NM_001164496.2

p.Q1790*

c.5368C>T

NM_001164496.2

p.D1781Y

c.5341G>T

NM_001164496.2

p.C1774_I1775del2

c.5320_5324del6

NM_001164496.2

p.P1798S

c.5392C>T

NM_001164496.2

p.R1806R

c.5418A>G

NM_001164496.2

p.E1818*

c.5452G>T

NM_001164496.2

p.S1821L

c.5462C>T

NM_001164496.2

p.S1835G

c.5503A>G

NM_001164496.2

p.S1843F

c.5528C>T

NM_001164496.2

p.P1844S

c.5530C>T

NM_001164496.2

p.E1746_E1747Splc

c.5238+19T>G