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.E45V

c.134A>T

Surrounding Variants

1 paper

NM_001377265.1

p.E45A

c.134A>C

5 papers

NM_001377265.1

p.E45Splc

c.133+1G>A

1 paper

NM_001377265.1

p.E45Q

c.133G>C

1 paper

NM_001377265.1

p.K44R

c.131A>G

2 papers

NM_001377265.1

p.K44Q

c.130A>C

1 paper

NM_001377265.1

p.L43L

c.129G>A

1 paper

NM_001377265.1

p.G42D

c.125G>A

1 paper

NM_001377265.1

p.L43delFs

c.127delC

3 papers

NM_001377265.1

p.G42S

c.124G>A

1 paper

NM_001377265.1

p.G42R

c.124G>C

1 paper

NM_001377265.1

p.G42_L43delFs

c.126_129del4

1 paper

NM_001377265.1

p.A41V

c.122C>T