Varaico: Literature-Extracted Genetic Variants

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.E575K

c.1723G>A

Surrounding Variants

1 paper

NM_005909.5

p.V574M

c.1720G>A

1 paper

NM_005909.5

p.P578L

c.1733C>T

1 paper

NM_005909.5

p.T569R

c.1706C>G

1 paper

NM_005909.5

p.E581V

c.1742A>T

1 paper

NM_005909.5

p.E563Q

c.1687G>C

1 paper

NM_005909.5

p.D591N

c.1771G>A

4 papers

NM_005909.5

p.D591E

c.1773C>A

4 papers

NM_005909.5

p.D591E

c.1773C>G

1 paper

NM_005909.5

p.V557M

c.1669G>A

4 papers

NM_005909.5

p.I594V

c.1780A>G

1 paper

NM_005909.5

p.A549S

c.1645G>T

1 paper

NM_005909.5

p.E543Q

c.1627G>C