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.K751*

c.2251A>T

Surrounding Variants

1 paper

NM_005909.5

p.P752fs

c.2254_2255fs

4 papers

NM_005909.5

p.K751insFs

c.2253dupA

1 paper

NM_005909.5

p.A749fs

c.2245_2246fs

1 paper

NM_005909.5

p.E748K

c.2242G>A

1 paper

NM_005909.5

p.S747Y

c.2240C>A

1 paper

NM_005909.5

p.S743F

c.2228C>T

1 paper

NM_005909.5

p.V766A

c.2297T>C

1 paper

NM_005909.5

p.K767N

c.2301G>C

1 paper

NM_005909.5

p.K767N

c.2301G>T

1 paper

NM_005909.5

p.K730E

c.2188A>G

1 paper

NM_005909.5

p.K723T

c.2168A>C

1 paper

NM_005909.5

p.K715N

c.2145G>C