Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_198270.4

p.T284_S285Splc

c.853-2A>G

Surrounding Variants

NM_198270.4

p.T284_S285Splc

c.853-1G>A

NM_001291867.2

p.P309R

c.926C>G

NM_001291867.2

p.T314I

c.941C>T

NM_001291867.2

p.L318*

c.953T>A

NM_001291867.2

p.S331A

c.991T>G

NM_001291867.2

p.D334N

c.1000G>A

NM_001291867.2

p.D334A

c.1001A>C

NM_001291867.2

p.P346fs

c.1036_1037fs

NM_001291867.2

p.P346delFs

c.1038delG

NM_001291867.2

p.E350K

c.1048G>A

NM_001291867.2

p.E350Q

c.1048G>C

NM_001291867.2

p.D355G

c.1064A>G