Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001375765.1

p.E80*

c.238G>T

Surrounding Variants

NM_001375765.1

p.L79P

c.236T>C

NM_001375765.1

p.P81L

c.242C>T

NM_001375765.1

p.Q75Q

c.225G>A

NM_001375765.1

p.Q70_D71delFs

c.210_211delCC

NM_001375765.1

p.L69delFs

c.205delG

NM_001375765.1

p.A67T

c.199G>A

NM_001375765.1

p.A66T

c.196G>A

NM_001375765.1

p.E59*

c.175G>T

NM_001375765.1

p.K55_V56Splc

c.166-2A>G

NM_001375765.1

p.K55E

c.163A>G

NM_001375765.1

p.A48V

c.143C>T

NM_001375765.1

p.L92fs

c.274_275fs