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.P438L

c.1313C>T

Surrounding Variants

1 paper

NM_001377265.1

p.P438A

c.1312C>G

1 paper

NM_001377265.1

p.P438P

c.1314G>A

1 paper

NM_016835.5

p.R364W

c.1090C>T

1 paper

NM_001377265.1

p.A436T

c.1306G>A

1 paper

NM_001377265.1

p.G440G

c.1320G>T

1 paper

NM_001377265.1

p.A436_R439del4

c.1306_1316del12

1 paper

NM_001377265.1

p.K441insFs

c.1323dupG

1 paper

NM_001377265.1

p.K441N

c.1323G>C

4 papers

NM_001377265.1

p.Q433P

c.1298A>C

1 paper

NM_001377265.1

p.V443_S444insFs

c.1329_1330insA

1 paper

NM_001377265.1

p.Q433E

c.1297C>G

1 paper

NM_001377265.1

p.R445_V446del2

c.1333_1337del6