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

2 papers

NM_001377265.1

p.G16W

c.46G>T

Surrounding Variants

1 paper

NM_001377265.1

p.G16R

c.46G>C

2 papers

NM_001377265.1

p.G16E

c.47G>A

1 paper

NM_001377265.1

p.G16A

c.47G>C

1 paper

NM_001377265.1

p.G16V

c.47G>T

1 paper

NM_001377265.1

p.G16G

c.48G>C

1 paper

NM_001377265.1

p.T17insFs

c.49_50ins4

3 papers

NM_001377265.1

p.T17A

c.49A>G

1 paper

NM_001377265.1

p.A15T

c.43G>A

8 papers

NM_001377265.1

p.T17M

c.50C>T

1 paper

NM_001377265.1

p.H14H

c.42C>T

3 papers

NM_001377265.1

p.H14L

c.41A>T

1 paper

NM_001377265.1

p.T17T

c.51G>A