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.V3147M

c.9439G>A

Surrounding Variants

1 paper

NM_001148.6

p.L3143V

c.9427C>G

2 papers

NM_001148.6

p.T3142P

c.9424A>C

3 papers

NM_001148.6

p.T3152A

c.9454A>G

1 paper

NM_001148.6

p.A3154A

c.9462T>A

1 paper

NM_001148.6

p.R3139fs

c.9415_9416fs

1 paper

NM_001148.6

p.S3138_E3141delFs

c.9414_9421del8

1 paper

NM_001148.6

p.E3137Q

c.9409G>C

1 paper

NM_001148.6

p.G3135V

c.9404G>T

1 paper

NM_001148.6

p.P3158P

c.9474G>T

1 paper

NM_001148.6

p.E3160V

c.9479A>T

1 paper

NM_001148.6

p.F3132F

c.9396C>T

1 paper

NM_001148.6

p.S3128N

c.9383G>A