Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000478.6

p.D183H

c.547G>C

Surrounding Variants

NM_000478.6

p.D183N

c.547G>A

NM_000478.6

p.R184G

c.550C>G

NM_000478.6

p.R184W

c.550C>T

NM_000478.6

p.D185_W186del0

c.553_558del6

NM_000478.6

p.A182fs

c.544_545fs

NM_000478.6

p.R184Q

c.551G>A

NM_000478.6

p.S181W

c.542C>G

NM_000478.6

p.S181L

c.542C>T

NM_000478.6

p.A182delFs

c.544delG

NM_000478.6

p.D185delFs

c.555delC

NM_000478.6

p.D185_Y187Fs

c.554_559delinsTGTGFs

NM_000478.6

p.H180R

c.539A>G