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

2 papers

NM_020987.5

p.H2885Q

c.8655C>A

Surrounding Variants

2 papers

NM_020987.5

p.H2885Q

c.8655C>G

1 paper

NM_020987.5

p.R2879T

c.8636G>C

1 paper

NM_020987.5

p.H2876delFs

c.8627delT

1 paper

NM_020987.5

p.H2876fs

c.8626_8627fs

1 paper

NM_020987.5

p.S2899F

c.8696C>T

3 papers

NM_020987.5

p.S2871L

c.8612C>T

1 paper

NM_020987.5

p.R2905fs

c.8713_8714fs

1 paper

NM_020987.5

p.E2904_R2905delFs

c.8712_8713delGT

5 papers

NM_020987.5

p.K2864N

c.8592G>T

5 papers

NM_020987.5

p.K2864N

c.8592G>C

1 paper

NM_020987.5

p.G2911_S2912insFs

c.8733_8734insGT

1 paper

NM_020987.5

p.S2912fs

c.8734_8735fs