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.M228I

c.684G>C

Surrounding Variants

1 paper

NM_001377265.1

p.P229S

c.685C>T

1 paper

NM_001377265.1

p.G227D

c.680G>A

2 papers

NM_001377265.1

p.G227A

c.680G>C

1 paper

NM_016835.5

p.G152S

c.454G>A

1 paper

NM_001123066.4

p.G155E

c.464G>A

1 paper

NM_001377265.1

p.G230V

c.689G>T

1 paper

NM_001377265.1

p.S226S

c.678C>T

4 papers

NM_001377265.1

p.S226F

c.677C>T

1 paper

NM_001377265.1

p.A231V

c.692C>T

2 papers

NM_001377265.1

p.S226fs

c.676_677fs

1 paper

NM_001377265.1

p.S226fs

c.676_677fs

5 papers

NM_001377265.1

p.P232A

c.694C>G