Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001321739.2

p.K474_H475Splc

c.1422+6G>A

Surrounding Variants

NM_001321739.2

p.K474_H475Splc

c.1422+5C>T

NM_001321739.2

p.R473K

c.1418G>A

NM_001321739.2

p.P472ins1

c.1415_1416insTCC

NM_001321739.2

p.P472S

c.1414C>T

NM_001321739.2

p.S469S

c.1407C>T

NM_001321739.2

p.L452L

c.1354C>T

NM_001321739.2

p.H451delFs

c.1351delG

NM_001321739.2

p.L433Q

c.1298T>A

NM_001321739.2

p.L433L

c.1297C>T

NM_001321739.2

p.L430P

c.1289T>C

NM_001321739.2

p.K474_H475Splc

c.1423-1G>A

NM_001321739.2

p.H475Y

c.1423C>T