Varaico: Literature-Extracted Genetic Variants

Gene:ASTN1
Variant:p.L681F

ASTN1

192 papers

RefSeq Summary

Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, a...

Pfam Domains

ASTN_1_2_Naa 95–641UCSCAstrotactin 1/2 N-terminal
ASTN1_2_fn3aa 1022–1143UCSCASTN1/2 Fn3 domain
Annexin_2aa 1145–1220UCSCAnnexin-like domain

Gene Aliases

HGNC Name

astrotactin 1

HGNC Previous Name

astrotactin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004319.3
p.L681F
c.2041C>T
Surrounding Variants
1 paper
NM_004319.3
p.Y678H
c.2032T>C
1 paper
NM_004319.3
p.D674Y
c.2020G>T
1 paper
NM_004319.3
p.Q667L
c.2000A>T
1 paper
NM_004319.3
p.L665F
c.1993C>T
1 paper
NM_004319.3
p.C664C
c.1992C>T
1 paper
NM_004319.3
p.C660Y
c.1979G>A
1 paper
NM_004319.3
p.G659C
c.1975G>T
1 paper
NM_004319.3
p.R646L
c.1937G>T
1 paper
NM_004319.3
p.D645V
c.1934A>T
1 paper
NM_004319.3
p.D645N
c.1933G>A
1 paper
NM_004319.3
p.M637R
c.1910T>G
1 paper
NM_004319.3
p.S715T
c.2144G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."