Varaico: Literature-Extracted Genetic Variants

Gene:MAP1B
Variant:p.E1885_D1886del1

MAP1B

251 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 39–235UCSCMicrotubule-associated protein 1B N-terminal
MBL_MAP1Baa 240–523UCSCMAP1B MBL-like domain
MAP1B_neuraxinaa 1878–1894UCSCNeuraxin and MAP1B repeat
MAP1B_neuraxinaa 1895–1911UCSCNeuraxin and MAP1B repeat
MAP1B_neuraxinaa 1929–1945UCSCNeuraxin and MAP1B repeat
MAP1B_neuraxinaa 1963–1979UCSCNeuraxin and MAP1B repeat

Gene Aliases

HGNC Name

microtubule associated protein 1B

HGNC Alias Symbols

MAP5; PPP1R102

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005909.5
p.E1885_D1886del1
c.5655_5657delAGA
Surrounding Variants
1 paper
NM_005909.5
p.D1886N
c.5656G>A
1 paper
NM_005909.5
p.Y1892*
c.5676T>A
1 paper
NM_005909.5
p.Y1892*
c.5676T>G
1 paper
NM_005909.5
p.Y1872S
c.5615A>C
1 paper
NM_005909.5
p.Y1906C
c.5717A>G
1 paper
NM_005909.5
p.K1908K
c.5724G>A
1 paper
NM_005909.5
p.T1913K
c.5738C>A
3 papers
NM_005909.5
p.S1915F
c.5744C>T
4 papers
NM_005909.5
p.S1917R
c.5749A>C
4 papers
NM_005909.5
p.S1917R
c.5751T>A
4 papers
NM_005909.5
p.S1917R
c.5751T>G
1 paper
NM_005909.5
p.Y1921H
c.5761T>C
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