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.A107G

c.320C>G

Surrounding Variants

3 papers

NM_001377265.1

p.A107T

c.319G>A

1 paper

NM_001377265.1

p.A107A

c.321G>A

1 paper

NM_001377265.1

p.A107P

c.319G>C

35 papers

NM_001377265.1

p.P108T

c.322C>A

2 papers

NM_001377265.1

p.P108insFs

c.322_323insGT

1 paper

NM_001377265.1

p.P108A

c.322C>G

1 paper

NM_001377265.1

p.K106insFs

c.316_317insA

1 paper

NM_001377265.1

p.E109V

c.326A>T

2 papers

NM_001377265.1

p.R105K

c.314G>A

1 paper

NM_001377265.1

p.R110G

c.328A>G

2 papers

NM_001377265.1

p.R110W

c.328A>T

1 paper

NM_001377265.1

p.Q104Q

c.312G>A