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

1–12 of 1380 variants

31 papers

NM_001148.6

p.E1458G

c.4373A>G

18 papers

NM_001148.6

p.S646F

c.1937C>T

17 papers

NM_001148.6

p.R3906W

c.11716C>T

15 papers

NM_001148.6

p.V3634D

c.10901T>A

14 papers

NM_001148.6

p.I3285T

c.9854T>C

13 papers

NM_001148.6

p.E3931K

c.11791G>A

12 papers

NM_001148.6

p.R990*

c.2968C>T

12 papers

NM_001148.6

p.R990Q

c.2969G>A

12 papers

NM_001148.6

p.V2369A

c.7106T>C

9 papers

NM_001148.6

p.P2835S

c.8503C>T

9 papers

NM_001148.6

p.S3300R

c.9898A>C

9 papers

NM_001148.6

p.S3300R

c.9900C>A