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

1–12 of 1004 variants

13 papers

NM_000037.4

p.R619H

c.1856G>A

10 papers

NM_000037.4

p.R281*

c.841C>T

10 papers

NM_000037.4

p.R1334*

c.4000C>T

9 papers

NM_000037.4

p.P114L

c.341C>T

9 papers

NM_000037.4

p.R286*

c.856C>T

9 papers

NM_000037.4

p.R935*

c.2803C>T

9 papers

NM_000037.4

p.R1436*

c.4306C>T

9 papers

NM_000037.4

p.R1682*

c.5044C>T

8 papers

NM_000037.4

p.R1252*

c.3754C>T

8 papers

NM_000037.4

p.R1488*

c.4462C>T

7 papers

NM_000037.4

p.V463I

c.1387G>A

7 papers

NM_000037.4

p.W1185R

c.3553T>C