Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.K275N

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.K275N
c.825G>C
Surrounding Variants
1 paper
NM_001375505.1
p.K275N
c.825G>T
1 paper
NM_001375505.1
p.E277D
c.831G>C
1 paper
NM_001375505.1
p.E277D
c.831G>T
1 paper
NM_001375505.1
p.T271M
c.812C>T
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.S285Y
c.854C>A
1 paper
NM_001375505.1
p.W265C
c.795G>C
1 paper
NM_001375505.1
p.W265C
c.795G>T
1 paper
NM_001375505.1
p.P286S
c.856C>T
1 paper
NM_001375505.1
p.D264N
c.790G>A
1 paper
NM_001375505.1
p.T290N
c.869C>A
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