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.R243L

c.728G>T

Surrounding Variants

1 paper

NM_001377265.1

p.R243H

c.728G>A

4 papers

NM_001377265.1

p.R243C

c.727C>T

1 paper

NM_001377265.1

p.R243R

c.729C>T

1 paper

NM_001377265.1

p.T242T

c.726A>T

2 papers

NM_001377265.1

p.Q244*

c.730C>T

1 paper

NM_001377265.1

p.Q244H

c.732A>T

1 paper

NM_001123066.4

p.P170delFs

c.509delC

1 paper

NM_001377265.1

p.A241A

c.723C>T

2 papers

NM_001377265.1

p.P245R

c.734C>G

1 paper

NM_001377265.1

p.P245P

c.735T>G

1 paper

NM_001377265.1

p.E240D

c.720G>C

1 paper

NM_001377265.1

p.R239S

c.717A>C