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

11 papers

NM_001377265.1

p.M31I

c.93G>A

Surrounding Variants

5 papers

NM_001377265.1

p.M31I

c.93G>C

1 paper

NM_001377265.1

p.H32P

c.95A>C

1 paper

NM_001377265.1

p.H32R

c.95A>G

2 papers

NM_001377265.1

p.M31L

c.91A>T

1 paper

NM_001377265.1

p.H32L

c.95A>T

1 paper

NM_001377265.1

p.M31_H32del1

c.92_94delTGC

4 papers

NM_001377265.1

p.T30_M31insFs

c.90_91ins4

1 paper

NM_001377265.1

p.Q33E

c.97C>G

5 papers

NM_001377265.1

p.Q33*

c.97C>T

3 papers

NM_001377265.1

p.T30I

c.89C>T

4 papers

NM_001377265.1

p.T30A

c.88A>G

1 paper

NM_001377265.1

p.Q33R

c.98A>G