Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001394410.1

p.E105*

c.313G>T

NM_001394410.1

p.E105_F108delFs

c.313_323del11

NM_001394410.1

p.A194T

c.580G>A

NM_001394410.1

p.S5F

c.14C>T

NM_001394410.1

p.A13V

c.38C>T

NM_001394410.1

p.L15P

c.44T>C

NM_001394410.1

p.D16E

c.48T>G

NM_001394410.1

p.D16E

c.48T>A

NM_001394410.1

p.T46N

c.137C>A

NM_001394410.1

p.A60T

c.178G>A

NM_001394410.1

p.S61C

c.182C>G

NM_001394410.1

p.V75F

c.223G>T