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.N3757D

c.11269A>G

Surrounding Variants

1 paper

NM_020987.5

p.C3752F

c.11255G>T

1 paper

NM_020987.5

p.S3751G

c.11251A>G

1 paper

NM_020987.5

p.S3764L

c.11291C>T

1 paper

NM_020987.5

p.E3746Q

c.11236G>C

1 paper

NM_020987.5

p.K3778fs

c.11332_11333fs

1 paper

NM_020987.5

p.K3778delFs

c.11334delT

1 paper

NM_020987.5

p.T3730P

c.11188A>C

1 paper

NM_020987.5

p.S3727F

c.11180C>T

4 papers

NM_020987.5

p.N3789S

c.11366A>G

1 paper

NM_020987.5

p.N3791Y

c.11371A>T

7 papers

NM_020987.5

p.T3720M

c.11159C>T

1 paper

NM_020987.5

p.S3794Y

c.11381C>A