Varaico: Literature-Extracted Genetic Variants

Gene:DISC1

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
1–12 of 271 variants
130 papers
NM_018662.3
p.S704C
c.2110A>T
68 papers
NM_018662.3
p.L607F
c.1819C>T
36 papers
NM_018662.3
p.R264Q
c.791G>A
17 papers
NM_018662.3
p.R37W
c.109C>T
11 papers
NM_018662.3
p.A83V
c.248C>T
9 papers
NM_018662.3
p.R418H
c.1253G>A
7 papers
NM_018662.3
p.E751Q
c.2251G>C
6 papers
NM_018662.3
p.G14A
c.41G>C
6 papers
NM_018662.3
p.T754S
c.2260A>T
6 papers
NM_018662.3
p.T754S
c.2261C>G
5 papers
NM_018662.3
p.G5D
c.14G>A
5 papers
NM_018662.3
p.A13G
c.38C>G
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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."