Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001375567.1

p.V971I

c.2911G>A

Surrounding Variants

NM_001375567.1

p.L964V

c.2890C>G

NM_001375567.1

p.L961P

c.2882T>C

NM_001375567.1

p.D981Y

c.2941G>T

NM_001375567.1

p.S982F

c.2945C>T

NM_001375567.1

p.P954P

c.2862G>A

NM_001375567.1

p.P954L

c.2861C>T

NM_001375567.1

p.E987_V988Splc

c.2962-5T>C

NM_001375567.1

p.P990T

c.2968C>A

NM_001375567.1

p.P990L

c.2969C>T

NM_001375567.1

p.Y1014C

c.3041A>G

NM_001375567.1

p.R1017_G1018insFs

c.3051_3052insA

NM_001375567.1

p.Q1019*

c.3055C>T