Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.E244G

DISC1

360 papers

RefSeq Summary

This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through ...

Pfam Domains

DISC1_Caa 783–826UCSCDISC1 C-terminal domain

Gene Aliases

HGNC Name

DISC1 scaffold protein

HGNC Previous Name

disrupted in schizophrenia 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018662.3
p.E244G
c.731A>G
Surrounding Variants
1 paper
NM_018662.3
p.S237S
c.711C>T
1 paper
NM_018662.3
p.S237Y
c.710C>A
1 paper
NM_018662.3
p.A235S
c.703G>T
1 paper
NM_018662.3
p.G254R
c.760G>A
1 paper
NM_018662.3
p.G254R
c.760G>C
1 paper
NM_018662.3
p.P255S
c.763C>T
1 paper
NM_018662.3
p.R233K
c.698G>A
1 paper
NM_018662.3
p.E227K
c.679G>A
1 paper
NM_018662.3
p.L262F
c.784C>T
1 paper
NM_018662.3
p.A226T
c.676G>A
1 paper
NM_018662.3
p.E225K
c.673G>A
4 papers
NM_018662.3
p.R264W
c.790C>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."