Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001291867.2

p.E48A

c.143A>C

Surrounding Variants

NM_001291867.2

p.V49A

c.146T>C

NM_001291867.2

p.E50K

c.148G>A

NM_001291867.2

p.E50*

c.148G>T

NM_001291867.2

p.L46fs

c.136_137fs

NM_001291867.2

p.D45D

c.135C>T

NM_001291867.2

p.L46delFs

c.136_137delCT

NM_001291867.2

p.A51V

c.152C>T

NM_001291867.2

p.R44S

c.132G>C

NM_001291867.2

p.R44S

c.132G>T

NM_001291867.2

p.R44K

c.131G>A

NM_001291867.2

p.R43R

c.129G>C

NM_001291867.2

p.R43Q

c.128G>A