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.K917insFs

c.2751dupG

Surrounding Variants

1 paper

NM_001384474.1

p.K920M

c.2759A>T

1 paper

NM_001384474.1

p.A914delFs

c.2741delG

1 paper

NM_001384474.1

p.R924Q

c.2771G>A

1 paper

NM_001384474.1

p.T909T

c.2727G>A

4 papers

NM_001384474.1

p.T909M

c.2726C>T

1 paper

NM_001384474.1

p.T909K

c.2726C>A

1 paper

NM_001384474.1

p.K928N

c.2784G>T

1 paper

NM_001384474.1

p.K928N

c.2784G>C

1 paper

NM_001384474.1

p.D907V

c.2720A>T

1 paper

NM_001384474.1

p.A934V

c.2801C>T

14 papers

NM_001384474.1

p.R899P

c.2696G>C

1 paper

NM_001384474.1

p.V896L

c.2686G>T