Varaico: Literature-Extracted Genetic Variants

Gene:LINS1
Variant:p.K304R

LINS1

57 papers

RefSeq Summary

The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. ...

Pfam Domains

LINES_Naa 193–542UCSCLines N-terminus
LINES_Caa 712–748UCSCLines C-terminus

Gene Aliases

HGNC Name

lines homolog 1

HGNC Previous Symbol

MRT27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040616.3
p.K304R
c.911A>G
Surrounding Variants
1 paper
NM_001040616.3
p.C306*
c.918C>A
9 papers
NM_001040616.3
p.E313K
c.937G>A
1 paper
NM_001040616.3
p.S281C
c.842C>G
1 paper
NM_001040616.3
p.P280L
c.839C>T
1 paper
NM_001040616.3
p.H329fs
c.985_986fs
1 paper
NM_001040616.3
p.H328_H329delFs
c.982_985del4
3 papers
NM_001040616.3
p.H329fs
c.985_986fs
4 papers
NM_001040616.3
p.H329_V330delFs
c.985_988del4
1 paper
NM_001040616.3
p.H329_V330delFs
c.985_989del5
1 paper
NM_001040616.3
p.L259V
c.775C>G
4 papers
NM_001040616.3
p.E366*
c.1096G>T
3 papers
NM_001040616.3
p.D241fs
c.721_722fs
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