Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.R127T

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
2 papers
NM_018662.3
p.R127T
c.380G>C
Surrounding Variants
1 paper
NM_018662.3
p.P129L
c.386C>T
1 paper
NM_018662.3
p.D130G
c.389A>G
1 paper
NM_018662.3
p.R131W
c.391A>T
1 paper
NM_018662.3
p.R123G
c.367A>G
1 paper
NM_018662.3
p.L132F
c.394C>T
2 papers
NM_018662.3
p.P135L
c.404C>T
1 paper
NM_018662.3
p.H117R
c.350A>G
1 paper
NM_018662.3
p.P138H
c.413C>A
2 papers
NM_018662.3
p.A116V
c.347C>T
1 paper
NM_018662.3
p.T114I
c.341C>T
1 paper
NM_018662.3
p.A141T
c.421G>A
1 paper
NM_018662.3
p.Q144L
c.431A>T
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