Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001145966.2

p.R2247H

c.6740G>A

NM_002417.5

p.R2607H

c.7820G>A

Surrounding Variants

NM_002417.5

p.P2608L

c.7823C>T

NM_002417.5

p.P2608delins

c.7823_7824delinsTT

NM_002417.5

p.E2592Q

c.7774G>C

NM_002417.5

p.T2630A

c.7888A>G

NM_002417.5

p.H2633Q

c.7899C>G

NM_002417.5

p.H2633Q

c.7899C>A

NM_002417.5

p.H2633_K2634delFs

c.7899_7900delTG

NM_002417.5

p.H2633_K2634del2

c.7897_7901del6

NM_002417.5

p.D2579V

c.7736A>T

NM_002417.5

p.R2649H

c.7946G>A

NM_002417.5

p.E2564delFs

c.7690_7691delTC

NM_002417.5

p.P2654P

c.7962A>G