Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 22 variants

NM_016108.4

p.G36R

c.106G>A

NM_016108.4

p.G36R

c.106G>C

NM_016108.4

p.K40*

c.118A>T

NM_016108.4

p.I45T

c.134T>C

NM_016108.4

p.L47_V48Splc

c.142-12298C>T

NM_016108.4

p.L47_V48Splc

c.142-1G>C

NM_016108.4

p.L59L

c.177G>A

NM_016108.4

p.V99_F100Splc

c.297+14664T>C

NM_016108.4

p.K119N

c.357G>C

NM_016108.4

p.K119N

c.357G>T

NM_016108.4

p.H131H

c.393C>T

NM_016108.4

p.M133_H134Splc

c.399+21485A>G