Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001319193.2

p.L751R

c.2252T>G

Surrounding Variants

NM_001319193.2

p.R795Q

c.2384G>A

NM_001319193.2

p.E809D

c.2427G>T

NM_001319193.2

p.E809D

c.2427G>C

NM_001319193.2

p.V818F

c.2452G>T

NM_001319193.2

p.R825R

c.2475G>A

NM_001319193.2

p.R707R

c.2121G>T

NM_001319193.2

p.S645N

c.1934G>A

NM_001319193.2

p.E637K

c.1909G>A

NM_001319193.2

p.Q620Q

c.1860G>A

NM_001319193.2

p.R603Q

c.1808G>A

NM_001319193.2

p.A919fs

c.2755_2756fs

NM_001319193.2

p.A919delFs

c.2756_2757delGG