Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001143986.2

p.D522H

c.1564G>C

Surrounding Variants

NM_001143986.2

p.D522A

c.1565A>C

NM_001143986.2

p.M530insFs

c.1589dupT

NM_001143986.2

p.M530fs

c.1588_1589fs

NM_001143986.2

p.M530T

c.1589T>C

NM_001143986.2

p.P531L

c.1592C>T

NM_001143986.2

p.G513Splc

c.1538-19G>A

NM_001143986.2

p.E538K

c.1612G>A

NM_001143986.2

p.E538_V539Splc

c.1614+16G>T

NM_001143986.2

p.S510Y

c.1529C>A

NM_001143986.2

p.S510F

c.1529C>T

NM_001143986.2

p.V503I

c.1507G>A

NM_001143986.2

p.Q487*

c.1459C>T