Varaico: Literature-Extracted Genetic Variants

LOXHD1

333 papers

RefSeq Summary

This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in ...

Pfam Domains

PLATaa 3–86UCSCPLAT/LH2 domain

PLATaa 45–154UCSCPLAT/LH2 domain

PLATaa 174–286UCSCPLAT/LH2 domain

PLATaa 298–411UCSCPLAT/LH2 domain

Gene Aliases

HGNC Name

lipoxygenase homology PLAT domains 1

HGNC Previous Symbol

DFNB77

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001384474.1

p.R615W

c.1843C>T

Surrounding Variants

3 papers

NM_001384474.1

p.R615Q

c.1844G>A

1 paper

NM_001384474.1

p.T613S

c.1838C>G

1 paper

NM_001384474.1

p.N616insFs

c.1848dupT

1 paper

NM_001384474.1

p.T613S

c.1837A>T

6 papers

NM_001384474.1

p.E610*

c.1828G>T

4 papers

NM_001384474.1

p.E610K

c.1828G>A

1 paper

NM_001384474.1

p.V620G

c.1859T>G

1 paper

NM_001384474.1

p.T608insFs

c.1823_1824ins4

1 paper

NM_001384474.1

p.D605D

c.1815C>T

1 paper

NM_001384474.1

p.A604fs

c.1810_1811fs

1 paper

NM_001384474.1

p.A604delFs

c.1811delG

6 papers

NM_001384474.1

p.G626C

c.1876G>T