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.D950delFs

c.2850delG

Surrounding Variants

1 paper

NM_001384474.1

p.E948delFs

c.2842delC

1 paper

NM_001384474.1

p.D947insFs

c.2840_2841insG

11 papers

NM_001384474.1

p.E955*

c.2863G>T

1 paper

NM_001384474.1

p.K942_R943del2

c.2824_2828del6

1 paper

NM_001384474.1

p.R943R

c.2829G>A

11 papers

NM_001384474.1

p.K942_R943del1

c.2825_2827delTCT

1 paper

NM_001384474.1

p.S960*

c.2879C>G

1 paper

NM_001384474.1

p.S960*

c.2879C>A

1 paper

NM_001384474.1

p.S964ins6

c.2891_2892ins18

1 paper

NM_001384474.1

p.A934V

c.2801C>T

1 paper

NM_001384474.1

p.E971E

c.2913A>G

1 paper

NM_001384474.1

p.K928N

c.2784G>T