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.P2476R

c.7427C>G

Surrounding Variants

2 papers

NM_001148.6

p.K2479R

c.7436A>G

1 paper

NM_001148.6

p.G2481R

c.7441G>A

1 paper

NM_001148.6

p.G2481R

c.7441G>C

1 paper

NM_001148.6

p.S2471N

c.7412G>A

1 paper

NM_001148.6

p.F2483I

c.7447T>A

8 papers

NM_001148.6

p.R2466H

c.7397G>A

1 paper

NM_001148.6

p.R2466C

c.7396C>T

1 paper

NM_001148.6

p.P2464S

c.7390C>T

1 paper

NM_001148.6

p.P2490_A2491insT

c.7468_7472ins3

2 papers

NM_001148.6

p.S2458C

c.7372A>T

2 papers

NM_001148.6

p.S2454Fs

c.7360_7361delinsAFs

1 paper

NM_001148.6

p.T2500R

c.7499C>G