Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001321739.2

p.K478_T479Splc

c.1435-1G>A

Surrounding Variants

NM_001321739.2

p.K478_T479Splc

c.1435-3C>T

NM_001321739.2

p.R486L

c.1457G>T

NM_001321739.2

p.R486Q

c.1457G>A

NM_001321739.2

p.R488delFs

c.1464delT

NM_001321739.2

p.P498L

c.1493C>T

NM_001321739.2

p.P500T

c.1498C>A

NM_001321739.2

p.R502K

c.1505G>A

NM_001321739.2

p.A503D

c.1508C>A

NM_001321739.2

p.H475Y

c.1423C>T

NM_001321739.2

p.K474_H475Splc

c.1423-1G>A

NM_001321739.2

p.K474_H475Splc

c.1422+6G>A

NM_001321739.2

p.K474_H475Splc

c.1422+5C>T