Varaico: Literature-Extracted Genetic Variants

SEC23IP

89 papers

RefSeq Summary

This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi trans...

Pfam Domains

WWEaa 271–342UCSCWWE domain

WWE_3aa 347–430UCSCWWE domain

SAM_1aa 642–703UCSCSAM domain (Sterile alpha motif)

DDHDaa 779–988UCSCDDHD domain

Gene Aliases

HGNC Name

SEC23 interacting protein

HGNC Alias Symbols

p125; iPLA1beta; iPLA1β; p125A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007190.4

p.K644E

c.1930A>G

Surrounding Variants

1 paper

NM_007190.4

p.S659F

c.1976C>T

1 paper

NM_007190.4

p.L593L

c.1777C>T

1 paper

NM_007190.4

p.E701*

c.2101G>T

1 paper

NM_007190.4

p.A705T

c.2113G>A

1 paper

NM_007190.4

p.R569W

c.1705C>T

1 paper

NM_007190.4

p.H561R

c.1682A>G

1 paper

NM_007190.4

p.N560T

c.1679A>C

1 paper

NM_007190.4

p.K554K

c.1662A>G

1 paper

NM_007190.4

p.I551V

c.1651A>G

1 paper

NM_007190.4

p.H501Y

c.1501C>T

1 paper

NM_007190.4

p.G490R

c.1468G>A

1 paper

NM_007190.4

p.G490R

c.1468G>C