Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_018569.6

p.E53_G54Splc

c.160-5T>C

Surrounding Variants

NM_018569.6

p.R62Splc

c.185+84C>A

NM_018569.6

p.S51G

c.151A>G

NM_018569.6

p.V70L

c.208G>C

NM_018569.6

p.E94fs

c.280_281fs

NM_018569.6

p.E44_F45Splc

c.133-169G>T

NM_018569.6

p.T42R

c.125C>G

NM_018569.6

p.S36fs

c.106_107fs

NM_018569.6

p.R123*

c.367C>T

NM_018569.6

p.R123L

c.368G>T

NM_018569.6

p.R132K

c.395G>A

NM_018569.6

p.G143E

c.428G>A

NM_018569.6

p.R159S

c.477A>T