Varaico: Literature-Extracted Genetic Variants

Gene:LRRC14
Variant:p.L250P

LRRC14

31 papers

RefSeq Summary

This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012].

Pfam Domains

PRAME_Naa 3–125UCSCPRAME N-terminal domain
PRAME_Caa 166–491UCSCPRAME C-terminal domain

Gene Aliases

HGNC Name

leucine rich repeat containing 14

HGNC Alias Symbols

KIAA0014; LRRC14A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014665.4
p.L250P
c.749T>C
Surrounding Variants
1 paper
NM_014665.4
p.L250M
c.748C>A
1 paper
NM_014665.4
p.R254W
c.760C>T
1 paper
NM_014665.4
p.R254Q
c.761G>A
1 paper
NM_014665.4
p.S262*
c.785C>A
1 paper
NM_014665.4
p.S262*
c.785C>G
1 paper
NM_014665.4
p.G236delFs
c.706_707delGG
1 paper
NM_014665.4
p.S266F
c.797C>T
1 paper
NM_014665.4
p.R228H
c.683G>A
1 paper
NM_014665.4
p.R274H
c.821G>A
1 paper
NM_014665.4
p.F283_L286delFs
c.847_857del11
1 paper
NM_014665.4
p.F283fs
c.847_848fs
1 paper
NM_014665.4
p.R194W
c.580C>T
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