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.D37H

c.109G>C

Surrounding Variants

1 paper

NM_001377137.1

p.R36Q

c.107G>A

1 paper

NM_001377137.1

p.P38T

c.112C>A

1 paper

NM_001377137.1

p.F43F

c.129C>T

1 paper

NM_001377137.1

p.E48insFs

c.143_144insA

1 paper

NM_001377137.1

p.S52N

c.155G>A

1 paper

NM_001377137.1

p.E55Splc

c.163+1G>A

1 paper

NM_001377137.1

p.W26R

c.76T>A

1 paper

NM_001377137.1

p.W26R

c.76T>C

1 paper

NM_001377137.1

p.I6M

c.18T>G

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