Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001289971.2

p.Y189H

c.565T>C

Surrounding Variants

NM_001289971.2

p.C240F

c.719G>T

NM_001289971.2

p.H257fs

c.769_770fs

NM_001289971.2

p.H257delFs

c.770delA

NM_001289971.2

p.R103S

c.309A>C

NM_001289971.2

p.R103S

c.309A>T

NM_001289971.2

p.H91R

c.272A>G

NM_001289971.2

p.E80Splc

c.239-60T>G

NM_001289971.2

p.G320*

c.958G>T

NM_001289971.2

p.E80Splc

c.239-81A>G

NM_001289971.2

p.K382N

c.1146A>C

NM_001289971.2

p.A383A

c.1149A>C

NM_001289971.2

p.F384V

c.1150T>G