Varaico: Literature-Extracted Genetic Variants

Gene:MAP1A
Variant:p.E211D

MAP1A

222 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

MAPB1_Naa 57–251UCSCMicrotubule-associated protein 1B N-terminal
MBL_MAP1Baa 256–539UCSCMAP1B MBL-like domain

Gene Aliases

HGNC Name

microtubule associated protein 1A

HGNC Previous Symbol

MAP1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002373.6
p.E211D
c.633G>C
Surrounding Variants
1 paper
NM_002373.6
p.Q217*
c.649C>T
1 paper
NM_002373.6
p.K192E
c.574A>G
1 paper
NM_002373.6
p.A173V
c.518C>T
1 paper
NM_002373.6
p.P255L
c.764C>T
1 paper
NM_002373.6
p.N167H
c.499A>C
1 paper
NM_002373.6
p.L166F
c.498A>C
1 paper
NM_002373.6
p.L166F
c.498A>T
1 paper
NM_002373.6
p.L166_N167delins
c.498_499delinsCC
1 paper
NM_002373.6
p.T259T
c.777T>G
1 paper
NM_002373.6
p.E260G
c.779A>G
1 paper
NM_002373.6
p.R264C
c.790C>T
1 paper
NM_002373.6
p.E158_A159ins0
c.474_476dupGGC
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