Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

NM_001198903.1

p.Q242*

c.724C>T

NM_001198903.1

p.S635_E636delFs

c.1903_1906del4

NM_001198903.1

p.L797*

c.2390T>G

NM_001198903.1

p.L797*

c.2390T>A

NM_001198903.1

p.Q222*

c.664C>T

NM_001198903.1

p.E801*

c.2401G>T

NM_001198903.1

p.L275_K276Splc

c.826-1G>A

NM_001198903.1

p.K276fs

c.826_827fs

NM_001198903.1

p.A333Splc

c.997+23T>G

NM_001198903.1

p.A333fs

c.997_998fs

NM_001198903.1

p.E636fs

c.1906_1907fs

NM_139119.3

p.M1K

c.2T>A