Varaico: Literature-Extracted Genetic Variants

ANXA6

471 papers

RefSeq Summary

Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic a...

Pfam Domains

Annexinaa 24–89UCSCAnnexin

Annexinaa 96–161UCSCAnnexin

Annexinaa 179–245UCSCAnnexin

Annexinaa 255–320UCSCAnnexin

Annexinaa 367–432UCSCAnnexin

Annexinaa 439–504UCSCAnnexin

Gene Aliases

HGNC Name

annexin A6

HGNC Previous Symbol

ANX6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001155.5

p.M33R

c.98T>G

Surrounding Variants

1 paper

NM_001155.5

p.M33L

c.97A>T

1 paper

NM_001155.5

p.M33L

c.97A>C

1 paper

NM_001155.5

p.G35D

c.104G>A

1 paper

NM_001155.5

p.G37Splc

c.109+1G>A

1 paper

NM_001155.5

p.G37Splc

c.109+5G>A

1 paper

NM_001155.5

p.A26insFs

c.77dupC

1 paper

NM_001155.5

p.D25_A26delFs

c.75_76delCA

1 paper

NM_001155.5

p.D25A

c.74A>C

1 paper

NM_001155.5

p.P22L

c.65C>T

1 paper

NM_001155.5

p.D21E

c.63C>G

1 paper

NM_001155.5

p.D21E

c.63C>A

1 paper

NM_001155.5

p.F20L

c.60T>G