Varaico: Literature-Extracted Genetic Variants

GBF1

90 papers

RefSeq Summary

This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchan...

Pfam Domains

Sec7-like_HUSaa 400–551UCSCMon2/Sec7/BIG1-like, HUS domain

Sec7aa 601–786UCSCSec7 domain

TPR_28aa 1474–1614UCSCGBF1-like, tetratrico peptide repeat region

TPR_28aa 1526–1696UCSCGBF1-like, tetratrico peptide repeat region

Gene Aliases

HGNC Name

golgi brefeldin A resistant guanine nucleotide exchange factor 1

HGNC Alias Symbols

KIAA0248; ARF1GEF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377137.1

p.E360V

c.1079A>T

Surrounding Variants

1 paper

NM_001377137.1

p.T341I

c.1022C>T

1 paper

NM_001377137.1

p.S298F

c.893C>T

2 papers

NM_001377137.1

p.S297A

c.889T>G

1 paper

NM_001377137.1

p.V286del1

c.856_857delGTC

1 paper

NM_001377137.1

p.A277P

c.829G>C

1 paper

NM_001377137.1

p.I274S

c.821T>G

1 paper

NM_001377137.1

p.P273S

c.817C>T

1 paper

NM_001377137.1

p.I405I

c.1215C>T

1 paper

NM_001377137.1

p.R406R

c.1218C>T

1 paper

NM_001377137.1

p.I413insFs

c.1238_1239insA

1 paper

NM_001377137.1

p.L432L

c.1294C>T

2 papers

NM_001377137.1

p.C459Y

c.1376G>A