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.G988delFs

c.2962delG

Surrounding Variants

1 paper

NM_001148.6

p.G988fs

c.2962_2963fs

12 papers

NM_001148.6

p.R990*

c.2968C>T

12 papers

NM_001148.6

p.R990Q

c.2969G>A

1 paper

NM_001148.6

p.R990R

c.2970A>C

1 paper

NM_001148.6

p.C984Y

c.2951G>A

2 papers

NM_001148.6

p.R982Q

c.2945G>A

1 paper

NM_001148.6

p.P994T

c.2980C>A

1 paper

NM_001148.6

p.P994S

c.2980C>T

1 paper

NM_001127493.3

p.R987W

c.2959C>T

1 paper

NM_001148.6

p.R996Q

c.2987G>A

6 papers

NM_001148.6

p.R977Q

c.2930G>A

6 papers

NM_001148.6

p.A1000P

c.2998G>C