Varaico: Literature-Extracted Genetic Variants

ARFGEF1

163 papers

RefSeq Summary

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bou...

Pfam Domains

DCBaa 28–213UCSCMon2/Sec7/BIG1-like, dimerisation and cyclophilin-binding domain

Sec7-like_HUSaa 419–578UCSCMon2/Sec7/BIG1-like, HUS domain

Sec7aa 698–882UCSCSec7 domain

Sec7-like_HDSaa 1220–1303UCSCMon2/Sec7/BIG1-like, HDS

BIG2_Caa 1622–1828UCSCBIG2 C-terminal domain

Gene Aliases

HGNC Name

ARF guanine nucleotide exchange factor 1

HGNC Alias Symbols

DKFZP434L057; BIG1; ARFGEP1; p200

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006421.5

p.M336fs

c.1006_1007fs

Surrounding Variants

3 papers

NM_006421.5

p.M336delFs

c.1006delT

1 paper

NM_006421.5

p.V340I

c.1018G>A

1 paper

NM_006421.5

p.V329L

c.985G>T

1 paper

NM_006421.5

p.V329L

c.985G>C

2 papers

NM_006421.5

p.G316E

c.947G>A

2 papers

NM_006421.5

p.Y314C

c.941A>G

1 paper

NM_006421.5

p.T306Splc

c.917-1G>T

1 paper

NM_006421.5

p.A304P

c.910G>C

1 paper

NM_006421.5

p.G285delFs

c.854delC

1 paper

NM_006421.5

p.S275R

c.825T>A

1 paper

NM_006421.5

p.T269A

c.805A>G

1 paper

NM_006421.5

p.D264delFs

c.790_791delTC