Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 49 variants

NM_001276351.2

p.V189I

c.565G>A

NM_001276351.2

p.E379K

c.1135G>A

NM_001276351.2

p.S31R

c.91A>C

NM_001276351.2

p.S31R

c.93T>G

NM_001276351.2

p.S31R

c.93T>A

NM_001276351.2

p.E85G

c.254A>G

NM_001276351.2

p.A116P

c.346G>C

NM_001276351.2

p.Q144R

c.431A>G

NM_001276351.2

p.S155S

c.465G>A

NM_001276351.2

p.Q319H

c.957G>T

NM_001276351.2

p.Q319H

c.957G>C

NM_001276351.2

p.E339_S341delFs

c.1017_1021del5