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.W658R

c.1972T>C

Surrounding Variants

1 paper

NM_001384474.1

p.G666E

c.1997G>A

1 paper

NM_001384474.1

p.V669I

c.2005G>A

16 papers

NM_001384474.1

p.R670*

c.2008C>T

1 paper

NM_001384474.1

p.R670Q

c.2009G>A

1 paper

NM_001384474.1

p.E671G

c.2012A>G

2 papers

NM_001384474.1

p.P674S

c.2020C>T

1 paper

NM_001384474.1

p.D676G

c.2027A>G

3 papers

NM_001384474.1

p.N683Splc

c.2047+1G>T

1 paper

NM_001384474.1

p.N683Splc

c.2047+1G>A

1 paper

NM_001384474.1

p.R657Splc

c.1971-169T>C

4 papers

NM_001384474.1

p.R685H

c.2054G>A

1 paper

NM_001384474.1

p.Y686C

c.2057A>G