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.I1396N

c.4187T>A

Surrounding Variants

1 paper

NM_001384474.1

p.V1394E

c.4181T>A

1 paper

NM_001384474.1

p.R1398S

c.4194G>T

1 paper

NM_001384474.1

p.R1398S

c.4194G>C

2 papers

NM_001384474.1

p.V1394M

c.4180G>A

2 papers

NM_001384474.1

p.P1401L

c.4202C>T

1 paper

NM_001384474.1

p.W1389*

c.4167G>A

1 paper

NM_001384474.1

p.W1389*

c.4166G>A

1 paper

NM_001384474.1

p.D1404_G1405Splc

c.4212+1G>C

17 papers

NM_001384474.1

p.D1404_G1405Splc

c.4212+1G>A

NM_001145472.3

p.D293_G294Splc

c.879+1G>A

1 paper

NM_001384474.1

p.D1404_G1405Splc

c.4212+5G>A

NM_001145472.3

p.D293_G294Splc

c.879+5G>A

2 papers

NM_001384474.1

p.T1383A

c.4147A>G

1 paper

NM_001145472.3

p.H269insFs

c.805dupC