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.P335A

c.1003C>G

Surrounding Variants

1 paper

NM_001377265.1

p.P335Q

c.1004C>A

3 papers

NM_001377265.1

p.A336A

c.1008G>C

1 paper

NM_001377265.1

p.G333A

c.998G>C

1 paper

NM_001377265.1

p.G333V

c.998G>T

1 paper

NM_001377265.1

p.E337K

c.1009G>A

2 papers

NM_001377265.1

p.G333fs

c.997_998fs

1 paper

NM_001377265.1

p.G333fs

c.997_998fs

1 paper

NM_001377265.1

p.E337G

c.1010A>G

2 papers

NM_001377265.1

p.G333delFs

c.998delG

1 paper

NM_001377265.1

p.E337delFs

c.1011delG

1 paper

NM_001377265.1

p.P332R

c.995C>G

4 papers

NM_001377265.1

p.P332L

c.995C>T