Varaico: Literature-Extracted Genetic Variants

ANK3

496 papers

RefSeq Summary

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activat...

Pfam Domains

Ank_2aa 46–137UCSCAnkyrin repeats (3 copies)

Ank_2aa 122–202UCSCAnkyrin repeats (3 copies)

Ank_2aa 196–267UCSCAnkyrin repeats (3 copies)

Ank_2aa 259–331UCSCAnkyrin repeats (3 copies)

Ank_2aa 323–397UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin 3

HGNC Previous Name

ankyrin 3, node of Ranvier (ankyrin G)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020987.5

p.T3964_T3965del1

c.11892_11894delGTG

Surrounding Variants

1 paper

NM_020987.5

p.T3965_A3966ins1

c.11895_11896insACC

2 papers

NM_020987.5

p.A3966T

c.11896G>A

1 paper

NM_020987.5

p.T3965del1

c.11893_11895delAGT

1 paper

NM_020987.5

p.T3964_T3965del2

c.11890_11894del6

1 paper

NM_020987.5

p.T3961A

c.11881A>G

2 papers

NM_020987.5

p.T3970_T3971del1

c.11910_11912delGTG

1 paper

NM_020987.5

p.T3972I

c.11915C>T

1 paper

NM_020987.5

p.T3970_T3971del2

c.11908_11912del6

1 paper

NM_020987.5

p.T3976S

c.11926A>T

1 paper

NM_020987.5

p.T3976S

c.11927C>G

1 paper

NM_020987.5

p.T3974_T3977del0

c.11922_11930del9

1 paper

NM_020987.5

p.T3974_T3977del4

c.11920_11930del12