Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.R5L

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
3 papers
NM_001375505.1
p.R5L
c.14G>T
Surrounding Variants
1 paper
NM_001375505.1
p.R5W
c.13C>T
1 paper
NM_001375505.1
p.E4V
c.11A>T
1 paper
NM_001375505.1
p.D7G
c.20A>G
1 paper
NM_001375505.1
p.D3V
c.8A>T
1 paper
NM_001375505.1
p.A9V
c.26C>T
1 paper
NM_001375505.1
p.M1K
c.2T>A
1 paper
NM_001375505.1
p.A11T
c.31G>A
1 paper
NM_001375505.1
p.P12_H13insFs
c.36_37insC
1 paper
NM_001375505.1
p.W14R
c.40T>A
1 paper
NM_001375505.1
p.W14R
c.40T>C
1 paper
NM_001375505.1
p.P18L
c.53C>T
1 paper
NM_001375505.1
p.T20K
c.59C>A
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