Varaico: Literature-Extracted Genetic Variants

Gene:MAP1B
Variant:p.Y2195*

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.Y2195*
c.6585C>A
Surrounding Variants
1 paper
NM_005909.5
p.Y2195*
c.6585C>G
1 paper
NM_005909.5
p.D2199E
c.6597C>A
1 paper
NM_005909.5
p.D2199E
c.6597C>G
1 paper
NM_005909.5
p.D2199D
c.6597C>T
1 paper
NM_005909.5
p.D2190N
c.6568G>A
1 paper
NM_005909.5
p.S2209N
c.6626G>A
1 paper
NM_005909.5
p.D2175N
c.6523G>A
1 paper
NM_005909.5
p.A2234S
c.6700G>T
2 papers
NM_005909.5
p.P2155L
c.6464C>T
1 paper
NM_005909.5
p.L2239delFs
c.6715delC
1 paper
NM_005909.5
p.T2245delFs
c.6733delA
1 paper
NM_005909.5
p.T2245A
c.6733A>G
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