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

6 papers

NM_001384474.1

p.G626C

c.1876G>T

Surrounding Variants

1 paper

NM_001384474.1

p.G628V

c.1883G>T

1 paper

NM_001384474.1

p.G628D

c.1883G>A

3 papers

NM_001384474.1

p.G630S

c.1888G>A

1 paper

NM_001384474.1

p.G630V

c.1889G>T

1 paper

NM_001384474.1

p.V620G

c.1859T>G

1 paper

NM_001384474.1

p.S631S

c.1893C>T

5 papers

NM_001384474.1

p.G632C

c.1894G>T

2 papers

NM_001384474.1

p.G632S

c.1894G>A

1 paper

NM_001384474.1

p.N616insFs

c.1848dupT

11 papers

NM_001384474.1

p.L635P

c.1904T>C

3 papers

NM_001384474.1

p.R615Q

c.1844G>A

4 papers

NM_001384474.1

p.R615W

c.1843C>T