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

1–12 of 118 variants

4 papers

NM_001377137.1

p.E130A

c.389A>C

2 papers

NM_001377137.1

p.H118L

c.353A>T

2 papers

NM_001377137.1

p.V207M

c.619G>A

2 papers

NM_001377137.1

p.S297A

c.889T>G

2 papers

NM_001377137.1

p.C459Y

c.1376G>A

2 papers

NM_001377137.1

p.E1614D

c.4842G>C

2 papers

NM_001377137.1

p.A1690T

c.5068G>A

1 paper

NM_001377137.1

p.M1I

c.3G>A

1 paper

NM_001377137.1

p.M1I

c.3G>C

1 paper

NM_001377137.1

p.M1I

c.3G>T

1 paper

NM_001377137.1

p.I6M

c.18T>G

1 paper

NM_001377137.1

p.W26R

c.76T>A