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

1–12 of 68 variants

4 papers

NM_007190.4

p.Q771_V772Splc

c.2313+1G>T

2 papers

NM_007190.4

p.A197V

c.590C>T

2 papers

NM_007190.4

p.K644E

c.1930A>G

2 papers

NM_007190.4

p.V755M

c.2263G>A

2 papers

NM_007190.4

p.R947Q

c.2840G>A

1 paper

NM_007190.4

p.T20T

c.60T>A

1 paper

NM_007190.4

p.F37Y

c.110T>A

1 paper

NM_007190.4

p.A43T

c.127G>A

1 paper

NM_007190.4

p.L50L

c.148C>T

1 paper

NM_007190.4

p.D59G

c.176A>G

1 paper

NM_007190.4

p.S84C

c.251C>G

1 paper

NM_007190.4

p.A105E

c.314C>A