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.Q989K

c.2965C>A

Surrounding Variants

1 paper

NM_001384474.1

p.H990N

c.2968C>A

1 paper

NM_001384474.1

p.K991K

c.2973G>A

1 paper

NM_001384474.1

p.E993K

c.2977G>A

1 paper

NM_001384474.1

p.R996H

c.2987G>A

1 paper

NM_001384474.1

p.W997*

c.2990G>A

1 paper

NM_001384474.1

p.W997*

c.2991G>A

1 paper

NM_001384474.1

p.G1001_K1002insFs

c.3003_3004insG

1 paper

NM_001384474.1

p.G1001fs

c.3001_3002fs

1 paper

NM_001384474.1

p.E1003K

c.3007G>A

1 paper

NM_001384474.1

p.E971_E974del0

c.2913_2921del9

1 paper

NM_001384474.1

p.E972_E973delFs

c.2916_2917delCT

1 paper

NM_001384474.1

p.E973D

c.2919G>T