Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

NM_001163692.2

p.Q303_F304Splc

c.910-7G>A

NM_001163692.2

p.P237R

c.710C>G

NM_001163692.2

p.M40_H41Splc

c.121-2A>C

NM_001163692.2

p.S212_R215delFs

c.634_644del11

NM_001163692.2

p.P230P

c.690T>C

NM_001163692.2

p.P237delFs

c.710delG

NM_001163692.2

p.R287*

c.859C>T

NM_001163692.2

p.F9C

c.26T>G

NM_001163692.2

p.P23H

c.68C>A

NM_001163692.2

p.G33R

c.97G>C

NM_001163692.2

p.G33R

c.97G>A

NM_001163692.2

p.E34*

c.100G>T