Varaico: Literature-Extracted Genetic Variants

Gene:MAP2
Variant:p.D1370E

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.D1370E
c.4110C>A
Surrounding Variants
1 paper
NM_001375505.1
p.D1370E
c.4110C>G
1 paper
NM_001375505.1
p.D1374E
c.4122T>A
1 paper
NM_001375505.1
p.D1374E
c.4122T>G
1 paper
NM_001375505.1
p.E1358*
c.4072G>T
1 paper
NM_001375505.1
p.V1390M
c.4168G>A
1 paper
NM_001375505.1
p.D1394N
c.4180G>A
1 paper
NM_001375505.1
p.D1394Splc
c.4180+1G>T
1 paper
NM_001375505.1
p.P1343L
c.4028C>T
1 paper
NM_001375505.1
p.F1331F
c.3993T>C
1 paper
NM_001375505.1
p.E1330Q
c.3988G>C
1 paper
NM_001375505.1
p.A1313V
c.3938C>T
1 paper
NM_001375505.1
p.A1312E
c.3935C>A
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