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

2 papers

NM_001377137.1

p.A1690T

c.5068G>A

Surrounding Variants

1 paper

NM_001377137.1

p.G1693S

c.5077G>A

1 paper

NM_001377137.1

p.P1695L

c.5084C>T

1 paper

NM_001377137.1

p.L1713L

c.5137C>T

1 paper

NM_001377137.1

p.Q1720P

c.5159A>C

2 papers

NM_001377137.1

p.E1614D

c.4842G>C

1 paper

NM_001377137.1

p.C1554R

c.4660T>C

1 paper

NM_001377137.1

p.D1768D

c.5304C>T

1 paper

NM_001377137.1

p.I1836L

c.5506A>C

1 paper

NM_004193.3

p.R1461Q

c.4382G>A

1 paper

NM_001377137.1

p.R1461H

c.4382G>A

1 paper

NM_001377137.1

p.G1429G

c.4287C>T

1 paper

NM_001377137.1

p.V1394L

c.4180G>C