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.P4A

c.10C>G

Surrounding Variants

5 papers

NM_001377265.1

p.P4T

c.10C>A

1 paper

NM_001377265.1

p.P4S

c.10C>T

1 paper

NM_001377265.1

p.E3_P4insFs

c.9_10insT

1 paper

NM_001377265.1

p.E3A

c.8A>C

1 paper

NM_001377265.1

p.E3G

c.8A>G

1 paper

NM_001377265.1

p.P4P

c.12C>G

3 papers

NM_001377265.1

p.P4P

c.12C>T

2 papers

NM_001377265.1

p.R5S

c.13C>A

3 papers

NM_001377265.1

p.R5G

c.13C>G

6 papers

NM_001377265.1

p.R5C

c.13C>T

1 paper

NM_001377265.1

p.E3K

c.7G>A

1 paper

NM_001377265.1

p.E3Q

c.7G>C