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.S117R

c.351C>A

Surrounding Variants

2 papers

NM_001377265.1

p.S117R

c.351C>G

1 paper

NM_001377265.1

p.S117N

c.350G>A

2 papers

NM_001377265.1

p.S117R

c.349A>C

1 paper

NM_001377265.1

p.A118G

c.353C>G

1 paper

NM_001377265.1

p.H119P

c.356A>C

1 paper

NM_001377265.1

p.H119Q

c.357C>A

2 papers

NM_001377265.1

p.V120I

c.358G>A

1 paper

NM_001377265.1

p.V120L

c.358G>C

1 paper

NM_001377265.1

p.V120V

c.360C>G

1 paper

NM_001377265.1

p.N114I

c.341A>T

1 paper

NM_001377265.1

p.P122T

c.364C>A

1 paper

NM_001377265.1

p.P122S

c.364C>T