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.Q322insFs

c.965_966insC

Surrounding Variants

1 paper

NM_001377265.1

p.P321P

c.963C>T

1 paper

NM_001377265.1

p.P321L

c.962C>T

1 paper

NM_001377265.1

p.P321S

c.961C>T

7 papers

NM_001377265.1

p.A324T

c.970G>A

1 paper

NM_001377265.1

p.P321del1

c.961_963delCCC

1 paper

NM_001377265.1

p.P320H

c.959C>A

1 paper

NM_001377265.1

p.P320L

c.959C>T

1 paper

NM_001377265.1

p.A325insFs

c.973dupG

1 paper

NM_001377265.1

p.A325delFs

c.973delG

1 paper

NM_001377265.1

p.A325T

c.973G>A

1 paper

NM_001377265.1

p.A325fs

c.973_974fs

2 papers

NM_001377265.1

p.R319Q

c.956G>A