Varaico: Literature-Extracted Genetic Variants

ANK1

477 papers

RefSeq Summary

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferati...

Pfam Domains

Ankaa 77–109UCSCAnkyrin repeat

Ankaa 110–142UCSCAnkyrin repeat

Gene Aliases

HGNC Name

ankyrin 1

HGNC Alias Symbol

SPH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001142446.2

p.N1504_M1505delFs

c.4510_4513del4

NM_000037.4

p.N1463_M1464delFs

c.4387_4390del4

Surrounding Variants

6 papers

NM_001142446.2

p.N1504fs

c.4510_4511fs

NM_000037.4

p.N1463fs

c.4387_4388fs

6 papers

NM_000037.4

p.A1462V

c.4385C>T

1 paper

NM_000037.4

p.L1453delFs

c.4358_4359delGA

1 paper

NM_001142446.2

p.Q1487delFs

c.4460delT

1 paper

NM_001142446.2

p.N1480insFs

c.4439dupA

1 paper

NM_000037.4

p.N1433_R1436del4

c.4297_4307del12

10 papers

NM_000037.4

p.R1436*

c.4306C>T

NM_001142446.2

p.R1477*

c.4429C>T

1 paper

NM_000037.4

p.R1434M

c.4301G>T

1 paper

NM_000037.4

p.E1430_D1431ins4

c.4288_4292ins12

6 papers

NM_000037.4

p.Q1426*

c.4276C>T

1 paper

NM_000037.4

p.L1425delFs

c.4274delA

1 paper

NM_000037.4

p.L1425fs

c.4273_4274fs