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

2 papers

NM_001148.6

p.I3940R

c.11819T>G

NM_020977.5

p.I1855R

c.5564T>G

Surrounding Variants

1 paper

NM_001148.6

p.K3941N

c.11823G>C

1 paper

NM_001148.6

p.K3941N

c.11823G>T

1 paper

NM_001148.6

p.D3934N

c.11800G>A

15 papers

NM_001148.6

p.E3931K

c.11791G>A

NM_001127493.3

p.E1837K

c.5509G>A

NM_020977.5

p.E1846K

c.5536G>A

1 paper

NM_001148.6

p.I3930I

c.11790C>T

1 paper

NM_001148.6

p.E3950K

c.11848G>A

1 paper

NM_001148.6

p.I3930F

c.11788A>T

1 paper

NM_001148.6

p.E3953G

c.11858A>G

1 paper

NM_001148.6

p.Q3921*

c.11761C>T

2 papers

NM_001148.6

p.S3909P

c.11725T>C

1 paper

NM_001148.6

p.Y3907F

c.11720A>T

19 papers

NM_001148.6

p.R3906W

c.11716C>T

NM_001127493.3

p.R1812W

c.5434C>T

NM_020977.5

p.R1821W

c.5461C>T