Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000478.6

p.E191K

c.571G>A

NM_001177520.3

p.E114K

c.340G>A

NM_001127501.4

p.E136K

c.406G>A

Surrounding Variants

NM_001177520.3

p.E114Q

c.340G>C

NM_000478.6

p.E191Q

c.571G>C

NM_001127501.4

p.E136Q

c.406G>C

NM_001127501.4

p.E136*

c.406G>T

NM_000478.6

p.E191*

c.571G>T

NM_001177520.3

p.E114*

c.340G>T

NM_000478.6

p.E191G

c.572A>G

NM_000478.6

p.E191D

c.573G>C

NM_000478.6

p.E191D

c.573G>T

NM_000478.6

p.D189E

c.567C>A

NM_000478.6

p.D189_N190insFs

c.567_568insT

NM_000478.6

p.D189E

c.567C>G

NM_000478.6

p.M192T

c.575T>C

NM_000478.6

p.P193A

c.577C>G

NM_000478.6

p.D189N

c.565G>A

NM_000478.6

p.N190del1

c.568_570delAAC