Varaico: Literature-Extracted Genetic Variants

Gene:MAP1A
Variant:p.D417N

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.D417N
c.1249G>A
Surrounding Variants
1 paper
NM_002373.6
p.E429Q
c.1285G>C
1 paper
NM_002373.6
p.K432K
c.1296G>A
1 paper
NM_002373.6
p.E383*
c.1147G>T
1 paper
NM_002373.6
p.K373R
c.1118A>G
1 paper
NM_002373.6
p.K369N
c.1107G>C
1 paper
NM_002373.6
p.K369N
c.1107G>T
1 paper
NM_002373.6
p.L475I
c.1423C>A
1 paper
NM_002373.6
p.K485R
c.1454A>G
1 paper
NM_002373.6
p.E347K
c.1039G>A
1 paper
NM_002373.6
p.D487G
c.1460A>G
1 paper
NM_002373.6
p.G344_A345insFs
c.1032_1033insT
1 paper
NM_002373.6
p.G344fs
c.1030_1031fs
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