Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.R599S

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.R599S
c.1797A>T
Surrounding Variants
1 paper
NM_001375505.1
p.R599S
c.1797A>C
1 paper
NM_001375505.1
p.S605A
c.1813T>G
1 paper
NM_001375505.1
p.D607N
c.1819G>A
1 paper
NM_001375505.1
p.H613P
c.1838A>C
1 paper
NM_001375505.1
p.G616R
c.1846G>C
1 paper
NM_001375505.1
p.G616C
c.1846G>T
1 paper
NM_001375505.1
p.A582V
c.1745C>T
1 paper
NM_001375505.1
p.G623E
c.1868G>A
1 paper
NM_001375505.1
p.E625D
c.1875A>C
1 paper
NM_001375505.1
p.E625D
c.1875A>T
1 paper
NM_001375505.1
p.S567S
c.1701A>G
1 paper
NM_001375505.1
p.E634K
c.1900G>A
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