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.V2910M

c.8728G>A

Surrounding Variants

1 paper

NM_001148.6

p.P2909T

c.8725C>A

1 paper

NM_001148.6

p.E2918K

c.8752G>A

1 paper

NM_001148.6

p.T2898A

c.8692A>G

1 paper

NM_001148.6

p.Q2923R

c.8768A>G

1 paper

NM_001148.6

p.S2896fs

c.8686_8687fs

1 paper

NM_001148.6

p.S2896delFs

c.8686delT

2 papers

NM_001148.6

p.D2894fs

c.8680_8681fs

1 paper

NM_001148.6

p.P2927S

c.8779C>T

1 paper

NM_001148.6

p.Y2928delFs

c.8782delT

1 paper

NM_001148.6

p.E2929K

c.8785G>A

1 paper

NM_001148.6

p.C2890Y

c.8669G>A

1 paper

NM_001148.6

p.P2932fs

c.8794_8795fs