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_004193.3

p.G568R

c.1702G>C

Surrounding Variants

1 paper

NM_001377137.1

p.T602A

c.1804A>G

1 paper

NM_001377137.1

p.I616T

c.1847T>C

1 paper

NM_001377137.1

p.L552insFs

c.1656dupC

1 paper

NM_001377137.1

p.C549F

c.1646G>T

1 paper

NM_001377137.1

p.Y548S

c.1643A>C

1 paper

NM_001377137.1

p.D544A

c.1631A>C

1 paper

NM_001377137.1

p.P682S

c.2044C>T

1 paper

NM_001377137.1

p.R683*

c.2047C>T

1 paper

NM_001377137.1

p.E696*

c.2086G>T

1 paper

NM_001377137.1

p.I697V

c.2089A>G

1 paper

NM_001377137.1

p.R479Q

c.1436G>A

1 paper

NM_001377137.1

p.F463C

c.1388T>G