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

1 paper

NM_007190.4

p.A43T

c.127G>A

Surrounding Variants

1 paper

NM_007190.4

p.F37Y

c.110T>A

1 paper

NM_007190.4

p.L50L

c.148C>T

1 paper

NM_007190.4

p.T20T

c.60T>A

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

1 paper

NM_007190.4

p.K115M

c.344A>T

1 paper

NM_007190.4

p.G143S

c.427G>A

1 paper

NM_007190.4

p.P146L

c.437C>T

1 paper

NM_007190.4

p.S154S

c.462T>G

1 paper

NM_007190.4

p.P160A

c.478C>G

1 paper

NM_007190.4

p.Q177H

c.531A>C