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

1–12 of 915 variants

32 papers

NM_001384474.1

p.R1494*

c.4480C>T

20 papers

NM_001384474.1

p.R1572*

c.4714C>T

16 papers

NM_001384474.1

p.R670*

c.2008C>T

16 papers

NM_001384474.1

p.D1404_G1405Splc

c.4212+1G>A

14 papers

NM_001384474.1

p.R899P

c.2696G>C

13 papers

NM_001384474.1

p.R1021Splc

c.3061+1G>A

12 papers

NM_001384474.1

p.G1509E

c.4526G>A

11 papers

NM_001384474.1

p.E530*

c.1588G>T

11 papers

NM_001384474.1

p.R547C

c.1639C>T

11 papers

NM_001384474.1

p.L635P

c.1904T>C

11 papers

NM_001384474.1

p.K942_R943del1

c.2825_2827delTCT

11 papers

NM_001384474.1

p.E955*

c.2863G>T