Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_002417.5

p.E2564delFs

c.7690_7691delTC

Surrounding Variants

NM_002417.5

p.R2554C

c.7660C>T

NM_002417.5

p.D2579V

c.7736A>T

NM_002417.5

p.R2549H

c.7646G>A

NM_002417.5

p.E2592Q

c.7774G>C

NM_002417.5

p.Q2531L

c.7592A>T

NM_002417.5

p.A2524V

c.7571C>T

NM_001145966.2

p.R2247H

c.6740G>A

NM_002417.5

p.R2607H

c.7820G>A

NM_002417.5

p.P2608L

c.7823C>T

NM_002417.5

p.P2608delins

c.7823_7824delinsTT

NM_002417.5

p.P2515L

c.7544C>T

NM_002417.5

p.P2515fs

c.7543_7544fs

NM_002417.5

p.T2509M

c.7526C>T