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

4 papers

NM_005909.5

p.V638L

c.1912G>T

Surrounding Variants

4 papers

NM_005909.5

p.V638L

c.1912G>C

1 paper

NM_005909.5

p.K640R

c.1919A>G

1 paper

NM_005909.5

p.K655R

c.1964A>G

1 paper

NM_005909.5

p.K657Fs

c.1970_1971delinsAFs

1 paper

NM_005909.5

p.E659fs

c.1975_1976fs

1 paper

NM_005909.5

p.K663fs

c.1987_1988fs

1 paper

NM_005909.5

p.K671K

c.2013G>A

1 paper

NM_005909.5

p.E672D

c.2016G>C

1 paper

NM_005909.5

p.E672D

c.2016G>T

3 papers

NM_005909.5

p.E679*

c.2035G>T

4 papers

NM_005909.5

p.I594V

c.1780A>G

4 papers

NM_005909.5

p.D591E

c.1773C>A