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

1 paper

NM_001384474.1

p.T883M

c.2648C>T

Surrounding Variants

9 papers

NM_001384474.1

p.G881R

c.2641G>C

9 papers

NM_001384474.1

p.G881R

c.2641G>A

1 paper

NM_001384474.1

p.R879P

c.2636G>C

2 papers

NM_001384474.1

p.R879W

c.2635C>T

1 paper

NM_001384474.1

p.G873G

c.2619C>T

1 paper

NM_001384474.1

p.D871N

c.2611G>A

1 paper

NM_001384474.1

p.V896L

c.2686G>T

1 paper

NM_001384474.1

p.V896L

c.2686G>C

14 papers

NM_001384474.1

p.R899P

c.2696G>C

1 paper

NM_001384474.1

p.D907V

c.2720A>T

4 papers

NM_001384474.1

p.T909M

c.2726C>T

1 paper

NM_001384474.1

p.T909K

c.2726C>A