Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000345.4

p.E130K

c.388G>A

Surrounding Variants

NM_000345.4

p.P128_S129del2

c.382_386del6

NM_000345.4

p.E130G

c.389A>G

NM_000345.4

p.E130A

c.389A>C

NM_000345.4

p.E130D

c.390G>T

NM_000345.4

p.E130D

c.390G>C

NM_000345.4

p.S129C

c.386C>G

NM_000345.4

p.S129Y

c.386C>A

NM_000345.4

p.S129A

c.385T>G

NM_000345.4

p.S129P

c.385T>C

NM_000345.4

p.E130_E131Splc

c.390+2T>A

NM_000345.4

p.P128delFs

c.382_383delGG

NM_000345.4

p.P128L

c.383C>T