Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

NM_001282490.2

p.G428del1

c.1282_1283delGGA

NM_001282490.2

p.V42I

c.124G>A

NM_001282490.2

p.C169R

c.505T>C

NM_001282490.2

p.E464K

c.1390G>A

NM_001282490.2

p.R485*

c.1453C>T

NM_001282490.2

p.A2fs

c.4_5fs

NM_001282490.2

p.A2_E3delFs

c.6_7delAG

NM_001282490.2

p.Q6_H7del2

c.16_20del6

NM_001282490.2

p.A30V

c.89C>T

NM_001282490.2

p.R89T

c.266G>C

NM_001282490.2

p.G143delFs

c.428delG

NM_001282490.2

p.E161Splc

c.482-12T>C