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.M240T

c.719T>C

Surrounding Variants

1 paper

NM_001377137.1

p.P236S

c.706C>T

1 paper

NM_001377137.1

p.R235L

c.704G>T

1 paper

NM_001377137.1

p.S233A

c.697T>G

1 paper

NM_001377137.1

p.P234insFs

c.701dupC

1 paper

NM_001377137.1

p.N253delFs

c.757delA

1 paper

NM_001377137.1

p.S259C

c.776C>G

1 paper

NM_001377137.1

p.P273S

c.817C>T

1 paper

NM_001377137.1

p.I274S

c.821T>G

1 paper

NM_001377137.1

p.A277P

c.829G>C

1 paper

NM_001377137.1

p.V286del1

c.856_857delGTC

2 papers

NM_001377137.1

p.S297A

c.889T>G

1 paper

NM_001377137.1

p.S298F

c.893C>T