Varaico: Literature-Extracted Genetic Variants

ARFGEF2

173 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 3–201UCSCMon2/Sec7/BIG1-like, dimerisation and cyclophilin-binding domain

Sec7-like_HUSaa 369–528UCSCMon2/Sec7/BIG1-like, HUS domain

Sec7aa 642–826UCSCSec7 domain

Sec7-like_HDSaa 1166–1249UCSCMon2/Sec7/BIG1-like, HDS

BIG2_Caa 1553–1759UCSCBIG2 C-terminal domain

Gene Aliases

HGNC Name

ARF guanine nucleotide exchange factor 2

HGNC Alias Symbol

BIG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006420.3

p.V83L

c.247G>C

Surrounding Variants

2 papers

NM_006420.3

p.V83L

c.247G>T

2 papers

NM_006420.3

p.V83delFs

c.249delA

2 papers

NM_006420.3

p.P81Q

c.242C>A

1 paper

NM_006420.3

p.P81fs

c.241_242fs

1 paper

NM_006420.3

p.Q77H

c.231G>C

1 paper

NM_006420.3

p.Q77H

c.231G>T

1 paper

NM_006420.3

p.Q77P

c.230A>C

1 paper

NM_006420.3

p.Q92K

c.274C>A

2 papers

NM_006420.3

p.P57S

c.169C>T

1 paper

NM_006420.3

p.R51Splc

c.152+1G>A

1 paper

NM_006420.3

p.A96_Y97delFs

c.287_291del5

1 paper

NM_006420.3

p.Y97H

c.289T>C