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_016835.5

p.Q198H

c.594G>T

Surrounding Variants

1 paper

NM_001377265.1

p.Q273Q

c.819G>A

1 paper

NM_016835.5

p.Q198H

c.594G>C

1 paper

NM_001377265.1

p.E274K

c.820G>A

1 paper

NM_001377265.1

p.E274G

c.821A>G

1 paper

NM_001377265.1

p.E274D

c.822G>C

2 papers

NM_001123066.4

p.G200E

c.599G>A

NM_001377265.1

p.G275E

c.824G>A

1 paper

NM_001377265.1

p.G275V

c.824G>T

1 paper

NM_001377265.1

p.G275G

c.825G>A

1 paper

NM_001377265.1

p.L271_H272delFs

c.813_816del4

1 paper

NM_001377265.1

p.L271V

c.811C>G

2 papers

NM_001377265.1

p.L271L

c.811C>T

1 paper

NM_016835.5

p.D195E

c.585C>A