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.A391V

c.1172C>T

Surrounding Variants

1 paper

NM_001377265.1

p.H392D

c.1174C>G

10 papers

NM_001377265.1

p.S393L

c.1178C>T

NM_016835.5

p.S318L

c.953C>T

5 papers

NM_001377265.1

p.E389K

c.1165G>A

1 paper

NM_001377265.1

p.E394K

c.1180G>A

1 paper

NM_001377265.1

p.K388_A391del4

c.1162_1172del12

1 paper

NM_001377265.1

p.V386A

c.1157T>C

2 papers

NM_001377265.1

p.V386M

c.1156G>A

1 paper

NM_001377265.1

p.V386_R399delFs

c.1157_1197del41

1 paper

NM_001377265.1

p.L397L

c.1189T>C

1 paper

NM_001377265.1

p.L397S

c.1190T>C

1 paper

NM_001377265.1

p.G398R

c.1192G>A

1 paper

NM_001377265.1

p.G398R

c.1192G>C