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

1–12 of 301 variants

6 papers

NM_005909.5

p.R303*

c.907C>T

6 papers

NM_005909.5

p.R1106*

c.3316C>T

6 papers

NM_005909.5

p.S1400G

c.4198A>G

6 papers

NM_005909.5

p.F1838L

c.5512T>C

5 papers

NM_005909.5

p.F1838L

c.5514C>A

5 papers

NM_005909.5

p.F1838L

c.5514C>G

4 papers

NM_005909.5

p.G268E

c.803G>A

4 papers

NM_005909.5

p.A273delFs

c.818delC

4 papers

NM_005909.5

p.Q532*

c.1594C>T

4 papers

NM_005909.5

p.D591E

c.1773C>A

4 papers

NM_005909.5

p.D591E

c.1773C>G

4 papers

NM_005909.5

p.I594V

c.1780A>G