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

11 papers

NM_001384474.1

p.E530*

c.1588G>T

Surrounding Variants

1 paper

NM_001384474.1

p.N529S

c.1586A>G

2 papers

NM_001384474.1

p.D532N

c.1594G>A

1 paper

NM_001384474.1

p.N533K

c.1599T>G

1 paper

NM_001384474.1

p.N533K

c.1599T>A

2 papers

NM_001384474.1

p.R524H

c.1571G>A

10 papers

NM_001384474.1

p.R524C

c.1570C>T

1 paper

NM_001384474.1

p.R524G

c.1570C>G

1 paper

NM_001384474.1

p.E538_M539insCA

c.1612_1616ins6

1 paper

NM_001384474.1

p.E538K

c.1612G>A

1 paper

NM_001384474.1

p.N521I

c.1562A>T

2 papers

NM_001384474.1

p.M539T

c.1616T>C

1 paper

NM_001384474.1

p.M539I

c.1617G>T