Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001386393.1

p.C231S

c.691T>A

Surrounding Variants

NM_001386393.1

p.C231S

c.692G>C

NM_001386393.1

p.C231_K234delFs

c.691_700del10

NM_001386393.1

p.D230A

c.689A>C

NM_001386393.1

p.C231*

c.693C>A

NM_001386393.1

p.D230N

c.688G>A

NM_001386393.1

p.D230delFs

c.689delA

NM_153638.4

p.D340fs

c.1018_1019fs

NM_153638.4

p.L339_D340Fs

c.1017_1020delinsGCTTTGCAAATTCGFs

NM_001386393.1

p.K234Q

c.700A>C

NM_001386393.1

p.K234E

c.700A>G

NM_001386393.1

p.K234*

c.700A>T

NM_001386393.1

p.E228_L229del2

c.682_686del6