Varaico: Literature-Extracted Genetic Variants

Gene:ASTN1
Variant:p.R1273S

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
3 papers
NM_004319.3
p.R1273S
c.3819G>C
Surrounding Variants
3 papers
NM_004319.3
p.R1273S
c.3819G>T
1 paper
NM_004319.3
p.T1275M
c.3824C>T
2 papers
NM_004319.3
p.R1270G
c.3808C>G
1 paper
NM_004319.3
p.L1268F
c.3802C>T
1 paper
NM_004319.3
p.A1266V
c.3797C>T
1 paper
NM_004319.3
p.P1284A
c.3850C>G
1 paper
NM_004319.3
p.G1262A
c.3785G>C
1 paper
NM_004319.3
p.Y1261N
c.3781T>A
1 paper
NM_004319.3
p.G1289E
c.3866G>A
1 paper
NM_004319.3
p.R1244Q
c.3731G>A
1 paper
NM_004319.3
p.R1244W
c.3730C>T
1 paper
NM_004319.3
p.I1241L
c.3721A>T
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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."