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.S1002R

c.3006C>G

Surrounding Variants

1 paper

NM_001377137.1

p.S1002R

c.3006C>A

1 paper

NM_001377137.1

p.S1002R

c.3004A>C

1 paper

NM_004193.3

p.A1009V

c.3026C>T

1 paper

NM_001377137.1

p.S990I

c.2969G>T

1 paper

NM_004193.3

p.C982Y

c.2945G>A

1 paper

NM_001377137.1

p.I979V

c.2935A>G

1 paper

NM_001377137.1

p.H968R

c.2903A>G

1 paper

NM_001377137.1

p.E1066A

c.3197A>C

1 paper

NM_001377137.1

p.E1067A

c.3200A>C

1 paper

NM_001377137.1

p.A955A

c.2865C>T

1 paper

NM_004193.3

p.Y898F

c.2693A>T

1 paper

NM_004193.3

p.Q1132*

c.3394C>T