Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.S704C

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
130 papers
NM_018662.3
p.S704C
c.2110A>T
Surrounding Variants
1 paper
NM_018662.3
p.I702F
c.2104A>T
1 paper
NM_018662.3
p.R699*
c.2095C>T
1 paper
NM_018662.3
p.E709Fs
c.2126delinsATFs
2 papers
NM_018662.3
p.C698S
c.2093G>C
2 papers
NM_018662.3
p.C698S
c.2092T>A
1 paper
NM_018662.3
p.E717D
c.2151A>C
1 paper
NM_018662.3
p.E717D
c.2151A>T
1 paper
NM_018662.3
p.R720R
c.2160G>A
2 papers
NM_018662.3
p.C684S
c.2051G>C
2 papers
NM_018662.3
p.C684S
c.2050T>A
2 papers
NM_018662.3
p.C682S
c.2045G>C
2 papers
NM_018662.3
p.C682S
c.2044T>A
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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."