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.Q6insFs

c.16dupC

Surrounding Variants

90 papers

NM_001377265.1

p.R5H

c.14G>A

1 paper

NM_001377265.1

p.R5P

c.14G>C

1 paper

NM_001377265.1

p.R5insFs

c.14_15insT

104 papers

NM_001377265.1

p.R5L

c.14G>T

1 paper

NM_001377265.1

p.Q6delFs

c.16delC

2 papers

NM_001377265.1

p.R5S

c.13C>A

1 paper

NM_001377265.1

p.R5R

c.15C>A

3 papers

NM_001377265.1

p.R5G

c.13C>G

6 papers

NM_001377265.1

p.R5C

c.13C>T

1 paper

NM_001377265.1

p.Q6_E9del4

c.16_26del12

1 paper

NM_001377265.1

p.P4P

c.12C>G

13 papers

NM_001377265.1

p.Q6*

c.16C>T