Varaico: Literature-Extracted Genetic Variants

ANK2

704 papers

RefSeq Summary

This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell ...

Pfam Domains

Ank_2aa 14–106UCSCAnkyrin repeats (3 copies)

Ankaa 63–95UCSCAnkyrin repeat

Ankaa 96–128UCSCAnkyrin repeat

Ank_2aa 98–171UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin 2

HGNC Previous Symbol

LQT4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001148.6

p.S3446G

c.10336A>G

Surrounding Variants

1 paper

NM_001148.6

p.S3446R

c.10336A>C

1 paper

NM_001148.6

p.S3446R

c.10338C>A

1 paper

NM_001148.6

p.S3446R

c.10338C>G

1 paper

NM_001148.6

p.V3444I

c.10330G>A

1 paper

NM_001148.6

p.T3450A

c.10348A>G

3 papers

NM_001148.6

p.R3441Q

c.10322G>A

1 paper

NM_001148.6

p.R3441*

c.10321C>T

1 paper

NM_001148.6

p.S3452A

c.10354T>G

1 paper

NM_001148.6

p.T3439fs

c.10315_10316fs

2 papers

NM_001148.6

p.G3456insFs

c.10367dupG

2 papers

NM_001148.6

p.R3454fs

c.10360_10361fs

1 paper

NM_001148.6

p.L3438delFs

c.10312delC