Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 96 variants

NM_001134438.2

p.C349R

c.1045T>C

NM_001134438.2

p.K762_E763Splc

c.2287-5T>C

NM_001134438.2

p.S46I

c.137G>T

NM_001134438.2

p.S116_S117del1

c.348_350delCTC

NM_001134438.2

p.S348_A350del3

c.1042_1049del9

NM_001134438.2

p.S348_A350del0

c.1043_1048del6

NM_001134438.2

p.R431Q

c.1292G>A

NM_001134438.2

p.E602K

c.1804G>A

NM_001134438.2

p.K1043_E1048del6

c.3127_3143del18

NM_001134438.2

p.R1056_E1057Splc

c.3168+1G>A

NM_001134438.2

p.H4D

c.10C>G

NM_001134438.2

p.D12Y

c.34G>T