Varaico: Literature-Extracted Genetic Variants

MAP2

502 papers

RefSeq Summary

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neu...

Pfam Domains

MAP2_projctnaa 377–1505UCSCMAP2/Tau projection domain

Tubulin-bindingaa 1660–1691UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 1692–1722UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 1723–1754UCSCTau and MAP protein, tubulin-binding repeat

Gene Aliases

HGNC Name

microtubule associated protein 2

HGNC Alias Symbols

MAP2A; MAP2B; MAP2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001375505.1

p.K307R

c.920A>G

Surrounding Variants

1 paper

NM_001375505.1

p.W304C

c.912G>C

1 paper

NM_001375505.1

p.W304C

c.912G>T

1 paper

NM_001375505.1

p.M313fs

c.937_938fs

1 paper

NM_001375505.1

p.P314insFs

c.941dupC

1 paper

NM_001375505.1

p.T290N

c.869C>A

1 paper

NM_001375505.1

p.P286S

c.856C>T

1 paper

NM_001375505.1

p.S285Y

c.854C>A

1 paper

NM_001375505.1

p.I284V

c.850A>G

1 paper

NM_001375505.1

p.I284L

c.850A>T

1 paper

NM_001375505.1

p.T335R

c.1004C>G

1 paper

NM_001375505.1

p.T337S

c.1009A>T

1 paper

NM_001375505.1

p.E277D

c.831G>C