Varaico: Literature-Extracted Genetic Variants

Gene:LRIG1
Variant:p.S304C

LRIG1

101 papers

Pfam Domains

LRR_4aa 71–112UCSCLeucine Rich repeats (2 copies)
LRR_8aa 139–189UCSCLeucine rich repeat
LRR_8aa 188–247UCSCLeucine rich repeat
LRR_8aa 307–367UCSCLeucine rich repeat
LRR_8aa 382–442UCSCLeucine rich repeat
LRRCTaa 465–490UCSCLeucine rich repeat C-terminal domain

Gene Aliases

HGNC Name

leucine rich repeats and immunoglobulin like domains 1

HGNC Alias Symbols

LIG-1; DKFZP586O1624

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015541.3
p.S304C
c.910A>T
Surrounding Variants
1 paper
NM_015541.3
p.R297H
c.890G>A
1 paper
NM_015541.3
p.N292H
c.874A>C
1 paper
NM_015541.3
p.H286R
c.857A>G
1 paper
NM_015541.3
p.S278T
c.832T>A
1 paper
NM_015541.3
p.E324K
c.970G>A
1 paper
NM_015541.3
p.E325Q
c.973G>C
3 papers
NM_015541.3
p.K249R
c.746A>G
1 paper
NM_015541.3
p.G349D
c.1046G>A
1 paper
NM_015541.3
p.A350delFs
c.1050delG
1 paper
NM_015541.3
p.R358Q
c.1073G>A
1 paper
NM_015541.3
p.S236T
c.707G>C
1 paper
NM_015541.3
p.L216Splc
c.648-5T>C
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