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.A891T

c.2671G>A

Surrounding Variants

1 paper

NM_007190.4

p.E914del1

c.2740_2742delGAA

1 paper

NM_007190.4

p.G867*

c.2599G>T

2 papers

NM_007190.4

p.R947Q

c.2840G>A

1 paper

NM_007190.4

p.Y950H

c.2848T>C

1 paper

NM_007190.4

p.P956L

c.2867C>T

1 paper

NM_007190.4

p.E962del1

c.2884_2886delGAA

1 paper

NM_007190.4

p.R989*

c.2965C>T

1 paper

NM_007190.4

p.P823_L824Splc

c.2470-115A>G

1 paper

NM_007190.4

p.I785M

c.2355A>G

4 papers

NM_007190.4

p.Q771_V772Splc

c.2313+1G>T

1 paper

NM_007190.4

p.G770R

c.2308G>A

1 paper

NM_007190.4

p.G770R

c.2308G>C