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.E783A

c.2348A>C

Surrounding Variants

1 paper

NM_001375505.1

p.I784V

c.2350A>G

1 paper

NM_001375505.1

p.S785T

c.2353T>A

1 paper

NM_001375505.1

p.E787E

c.2361G>A

1 paper

NM_001375505.1

p.E770G

c.2309A>G

1 paper

NM_001375505.1

p.E770K

c.2308G>A

1 paper

NM_001375505.1

p.N798fs

c.2392_2393fs

3 papers

NM_001375505.1

p.G799D

c.2396G>A

1 paper

NM_001375505.1

p.T800T

c.2400T>C

1 paper

NM_001375505.1

p.P804P

c.2412T>C

1 paper

NM_001375505.1

p.L806I

c.2416C>A

1 paper

NM_001375505.1

p.P760L

c.2279C>T

1 paper

NM_001375505.1

p.A756S

c.2266G>T