Varaico: Literature-Extracted Genetic Variants

MAPT

2,873 papers

RefSeq Summary

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differenti...

Pfam Domains

Tubulin-bindingaa 560–591UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 592–622UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 623–653UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 654–685UCSCTau and MAP protein, tubulin-binding repeat

Gene Aliases

HGNC Name

microtubule associated protein tau

HGNC Previous Symbols

DDPAC; MAPTL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377265.1

p.Q266H

c.798G>T

Surrounding Variants

1 paper

NM_001377265.1

p.Q266Q

c.798G>A

1 paper

NM_001377265.1

p.Q266H

c.798G>C

1 paper

NM_001377265.1

p.Q266insFs

c.796_797ins10

6 papers

NM_001377265.1

p.Q266E

c.796C>G

1 paper

NM_001123066.4

p.Q191delFs

c.572delA

1 paper

NM_001377265.1

p.G269E

c.806G>A

1 paper

NM_001123066.4

p.G194G

c.582A>T

1 paper

NM_001377265.1

p.L263V

c.787C>G

1 paper

NM_016835.5

p.D195E

c.585C>A

1 paper

NM_016835.5

p.D195E

c.585C>G

1 paper

NM_001377265.1

p.D270D

c.810C>T

1 paper

NM_001377265.1

p.L271V

c.811C>G