Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF16
Variant:p.K491_S492Splc

ARHGEF16

94 papers

RefSeq Summary

Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008].

Pfam Domains

RhoGEFaa 288–466UCSCRhoGEF domain
PHaa 502–620UCSCPH domain
SH3_1aa 638–681UCSCSH3 domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 16

HGNC Alias Symbol

GEF16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014448.4
p.K491_S492Splc
c.1473+8G>T
Surrounding Variants
1 paper
NM_014448.4
p.E467K
c.1399G>A
1 paper
NM_014448.4
p.K491_S492Splc
c.1473+90G>A
1 paper
NM_014448.4
p.R453S
c.1357C>A
1 paper
NM_014448.4
p.E446K
c.1336G>A
1 paper
NM_014448.4
p.S445S
c.1335C>T
1 paper
NM_014448.4
p.L493F
c.1477C>T
1 paper
NM_014448.4
p.I496M
c.1488C>G
1 paper
NM_014448.4
p.S497C
c.1490C>G
1 paper
NM_014448.4
p.S497S
c.1491T>C
1 paper
NM_014448.4
p.R500L
c.1499G>T
1 paper
NM_014448.4
p.R518Q
c.1553G>A
1 paper
NM_014448.4
p.R523_F531delFs
c.1568_1592del25
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