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

16 papers

NM_001148.6

p.V3634D

c.10901T>A

NM_020977.5

p.V1549D

c.4646T>A

Surrounding Variants

1 paper

NM_001148.6

p.V3634I

c.10900G>A

1 paper

NM_001148.6

p.L3633L

c.10899C>T

2 papers

NM_001148.6

p.N3632_L3633del2

c.10894_10898del6

1 paper

NM_001148.6

p.I3640I

c.10920C>T

1 paper

NM_001148.6

p.V3646F

c.10936G>T

3 papers

NM_001148.6

p.E3650Q

c.10948G>C

2 papers

NM_001148.6

p.T3653K

c.10958C>A

2 papers

NM_001148.6

p.R3659C

c.10975C>T

3 papers

NM_001148.6

p.R3659L

c.10976G>T

1 paper

NM_001148.6

p.E3668_Q3669delFs

c.11003_11006del4

2 papers

NM_020977.5

p.T1585N

c.4754C>A

NM_001148.6

p.T3670N

c.11009C>A

1 paper

NM_001148.6

p.S3676T

c.11027G>C