Varaico: Literature-Extracted Genetic Variants

Gene:LRRC56
Variant:p.K141_E142Splc

LRRC56

83 papers

Pfam Domains

LRR_4aa 116–158UCSCLeucine Rich repeats (2 copies)

Gene Aliases

HGNC Name

leucine rich repeat containing 56

HGNC Alias Symbols

FLJ00101; oda8; DKFZp761L1518; DNAAF12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_198075.4
p.K141_E142Splc
c.423+1G>A
Surrounding Variants
4 papers
NM_198075.4
p.L140P
c.419T>C
1 paper
NM_198075.4
p.S136insFs
c.407_408insT
1 paper
NM_198075.4
p.S136fs
c.406_407fs
1 paper
NM_198075.4
p.K141_E142Splc
c.423+30C>G
1 paper
NM_198075.4
p.L128L
c.384C>T
1 paper
NM_198075.4
p.A124V
c.371C>T
1 paper
NM_198075.4
p.L123L
c.367C>T
1 paper
NM_198075.4
p.T113T
c.339G>A
6 papers
NM_198075.4
p.L165P
c.494T>C
1 paper
NM_198075.4
p.G169V
c.506G>T
2 papers
NM_198075.4
p.Q182K
c.544C>A
1 paper
NM_198075.4
p.Q182*
c.544C>T
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