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.S1637S

c.4911A>G

Surrounding Variants

1 paper

NM_020987.5

p.S1638*

c.4913C>G

1 paper

NM_020987.5

p.S1638*

c.4913C>A

1 paper

NM_020987.5

p.R1636S

c.4908G>T

1 paper

NM_020987.5

p.R1636S

c.4908G>C

3 papers

NM_020987.5

p.R1636K

c.4907G>A

1 paper

NM_020987.5

p.G1631delFs

c.4892_4893delCC

1 paper

NM_020987.5

p.G1631fs

c.4891_4892fs

1 paper

NM_020987.5

p.A1645T

c.4933G>A

1 paper

NM_020987.5

p.A1630V

c.4889C>T

1 paper

NM_020987.5

p.T1629fs

c.4885_4886fs

1 paper

NM_020987.5

p.T1628insFs

c.4883_4884insCC

1 paper

NM_020987.5

p.N1650Y

c.4948A>T