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.A281T

c.841G>A

Surrounding Variants

1 paper

NM_001377265.1

p.A281S

c.841G>T

1 paper

NM_001377265.1

p.A281G

c.842C>G

1 paper

NM_001377265.1

p.A281V

c.842C>T

2 papers

NM_016835.5

p.G207R

c.619G>A

NM_001377265.1

p.G282R

c.844G>A

1 paper

NM_001377265.1

p.G282R

c.844G>C

1 paper

NM_001123066.4

p.K204_G205insFs

c.612_613insG

2 papers

NM_001377265.1

p.G283D

c.848G>A

4 papers

NM_001123066.4

p.P202L

c.605C>T

NM_016835.5

p.P277L

c.830C>T

3 papers

NM_001377265.1

p.E285K

c.853G>A

2 papers

NM_001377265.1

p.R286K

c.857G>A

1 paper

NM_001377265.1

p.G275G

c.825G>A

2 papers

NM_001123066.4

p.G200E

c.599G>A

NM_001377265.1

p.G275E

c.824G>A