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.N1005K

c.3015C>G

Surrounding Variants

1 paper

NM_001384474.1

p.N1005K

c.3015C>A

1 paper

NM_001384474.1

p.N1005H

c.3013A>C

1 paper

NM_001384474.1

p.N1005_E1006del1

c.3015_3017delTCG

1 paper

NM_001384474.1

p.E1003K

c.3007G>A

1 paper

NM_001384474.1

p.V1008V

c.3024C>T

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.E1010G

c.3029A>G

1 paper

NM_001384474.1

p.W997*

c.2991G>A

1 paper

NM_001384474.1

p.W997*

c.2990G>A

1 paper

NM_001384474.1

p.R996H

c.2987G>A

1 paper

NM_001384474.1

p.P1017Q

c.3050C>A