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.E971_E974del0

c.2913_2921del9

Surrounding Variants

1 paper

NM_001384474.1

p.E972_E973delFs

c.2916_2917delCT

1 paper

NM_001384474.1

p.E973D

c.2919G>T

1 paper

NM_001384474.1

p.E973D

c.2919G>C

1 paper

NM_001384474.1

p.E971E

c.2913A>G

1 paper

NM_001384474.1

p.S964ins6

c.2891_2892ins18

1 paper

NM_001384474.1

p.S960*

c.2879C>G

1 paper

NM_001384474.1

p.Q989K

c.2965C>A

1 paper

NM_001384474.1

p.S960*

c.2879C>A

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

11 papers

NM_001384474.1

p.E955*

c.2863G>T