Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001029896.2

p.H45fs

c.133_134fs

Surrounding Variants

NM_001029896.2

p.D44fs

c.130_131fs

NM_001029896.2

p.D44Splc

c.131-1G>A

NM_001029896.2

p.D44Splc

c.131-2A>G

NM_001029896.2

p.G49G

c.147C>T

NM_001029896.2

p.S50R

c.148A>C

NM_001029896.2

p.S50R

c.150C>G

NM_001029896.2

p.S50R

c.150C>A

NM_001029896.2

p.M51_L53del3

c.151_158del9

NM_001029896.2

p.L53_V54del2

c.157_161del6

NM_001029896.2

p.E55A

c.164A>C

NM_001029896.2

p.V54_E55del1

c.161_163delCCA

NM_001029896.2

p.L57M

c.169C>A