Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.M1T

C9orf72

446 papers

RefSeq Summary

The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic trans...

Pfam Domains

C9orf72-likeaa 61–324UCSCC9orf72-like protein family

Gene Aliases

HGNC Name

C9orf72-SMCR8 complex subunit

HGNC Alias Symbols

MGC23980; DENNL72; DENND9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_018325.5
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_018325.5
p.M1K
c.2T>A
4 papers
NM_018325.5
p.M1I
c.3G>C
1 paper
NM_018325.5
p.M1I
c.3G>A
3 papers
NM_018325.5
p.M1V
c.1A>G
1 paper
NM_018325.5
p.M1insFs
c.1_2insT
1 paper
NM_018325.5
p.M1insFs
c.1_2ins4
1 paper
NM_018325.5
p.M1insFs
c.1_2ins4
1 paper
NM_018325.5
p.S2L
c.5C>T
1 paper
NM_018325.5
p.S2W
c.5C>G
1 paper
NM_018325.5
p.S2S
c.6G>C
2 papers
NM_018325.5
p.T3I
c.8C>T
1 paper
NM_018325.5
p.C5insFs
c.13dupT
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