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.S1363T

c.4088G>C

Surrounding Variants

1 paper

NM_001377137.1

p.V1394L

c.4180G>C

1 paper

NM_001377137.1

p.V1394L

c.4180G>T

1 paper

NM_001377137.1

p.G1429G

c.4287C>T

1 paper

NM_001377137.1

p.E1322_G1328delFs

c.3965_3984del20

1 paper

NM_001377137.1

p.R1461H

c.4382G>A

1 paper

NM_004193.3

p.R1461Q

c.4382G>A

1 paper

NM_001377137.1

p.T1287I

c.3860C>T

1 paper

NM_001377137.1

p.A1286V

c.3857C>T

1 paper

NM_004193.3

p.L1246R

c.3737T>G

1 paper

NM_001377137.1

p.R1238_V1239insA

c.3712_3716ins3

1 paper

NM_001377137.1

p.C1554R

c.4660T>C

2 papers

NM_001377137.1

p.E1614D

c.4842G>C