Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.L444P

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.L444P
c.1331T>C
Surrounding Variants
1 paper
NM_001375505.1
p.T440S
c.1319C>G
1 paper
NM_001375505.1
p.T440S
c.1318A>T
1 paper
NM_001375505.1
p.E437G
c.1310A>G
1 paper
NM_001375505.1
p.L435F
c.1303C>T
1 paper
NM_001375505.1
p.G430V
c.1289G>T
1 paper
NM_001375505.1
p.S429C
c.1285A>T
1 paper
NM_001375505.1
p.T427S
c.1280C>G
1 paper
NM_001375505.1
p.T427S
c.1279A>T
1 paper
NM_001375505.1
p.T419I
c.1256C>T
1 paper
NM_001375505.1
p.I472I
c.1416A>T
1 paper
NM_001375505.1
p.Q474E
c.1420C>G
2 papers
NM_001375505.1
p.K412R
c.1235A>G
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