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

32 papers

NM_001384474.1

p.R1494*

c.4480C>T

NM_001145472.3

p.R383*

c.1147C>T

Surrounding Variants

1 paper

NM_001384474.1

p.L1496F

c.4486C>T

1 paper

NM_001308013.2

p.T284I

c.851C>T

3 papers

NM_001384474.1

p.G1489R

c.4465G>C

3 papers

NM_001384474.1

p.G1489R

c.4465G>A

2 papers

NM_001384474.1

p.D1487N

c.4459G>A

1 paper

NM_001384474.1

p.R1502W

c.4504C>T

1 paper

NM_001384474.1

p.E1507K

c.4519G>A

1 paper

NM_001384474.1

p.R1508T

c.4523G>C

3 papers

NM_001384474.1

p.R1508K

c.4523G>A

NM_001145472.3

p.R397K

c.1190G>A

12 papers

NM_001384474.1

p.G1509E

c.4526G>A

NM_001145472.3

p.G398E

c.1193G>A

1 paper

NM_001384474.1

p.T1510M

c.4529C>T

1 paper

NM_001384474.1

p.T1510T

c.4530G>A