Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_020817.2

p.P515R

c.1544C>G

Surrounding Variants

NM_020817.2

p.S511_L512del2

c.1531_1535del6

NM_020817.2

p.S511_L512delFs

c.1532_1535del4

NM_020817.2

p.H520Q

c.1560C>G

NM_020817.2

p.H520Q

c.1560C>A

NM_020817.2

p.S506C

c.1517C>G

NM_020817.2

p.P527L

c.1580C>T

NM_020817.2

p.I577V

c.1729A>G

NM_020817.2

p.E579K

c.1735G>A

NM_020817.2

p.A596S

c.1786G>T

NM_020817.2

p.R611T

c.1832G>C

NM_020817.2

p.R668*

c.2002C>T

NM_020817.2

p.R668P

c.2003G>C