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

32 papers

NM_001148.6

p.E1458G

c.4373A>G

NM_001127493.3

p.E1449G

c.4346A>G

Surrounding Variants

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4372-6G>A

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4372-6G>T

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4372-7C>T

1 paper

NM_001148.6

p.S1461L

c.4382C>T

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4372-8G>A

2 papers

NM_001127493.3

p.E1458G

c.4373A>G

1 paper

NM_001148.6

p.E1468V

c.4403A>T

1 paper

NM_001148.6

p.E1468_I1469Splc

c.4404+37T>C

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4371+100G>A

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4371+6G>A

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4371+5C>A

1 paper

NM_001148.6

p.K1457K

c.4371G>A