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.V157L

c.469G>C

Surrounding Variants

1 paper

NM_001377137.1

p.V157L

c.469G>T

1 paper

NM_001377137.1

p.E159V

c.476A>T

1 paper

NM_001377137.1

p.V148A

c.443T>C

1 paper

NM_001377137.1

p.V139L

c.415G>C

1 paper

NM_001377137.1

p.K135R

c.404A>G

4 papers

NM_001377137.1

p.E130A

c.389A>C

2 papers

NM_001377137.1

p.H118L

c.353A>T

1 paper

NM_001377137.1

p.L185L

c.555C>G

1 paper

NM_001377137.1

p.V186I

c.556G>A

1 paper

NM_001377137.1

p.T105R

c.314C>G

2 papers

NM_001377137.1

p.V207M

c.619G>A

1 paper

NM_001377137.1

p.S233A

c.697T>G