Varaico: Literature-Extracted Genetic Variants

SORBS1

396 papers

RefSeq Summary

This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative...

Pfam Domains

Sorbaa 370–411UCSCSorbin homologous domain

Gene Aliases

HGNC Name

sorbin and SH3 domain containing 1

HGNC Previous Symbol

SH3D5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001034954.3

p.T237A

c.709A>G

Surrounding Variants

2 papers

NM_001034954.3

p.T237M

c.710C>T

1 paper

NM_001034954.3

p.S240_F241insFs

c.720_721insG

1 paper

NM_001034954.3

p.A232V

c.695C>T

1 paper

NM_001034954.3

p.A232G

c.695C>G

2 papers

NM_001034954.3

p.P243L

c.728C>T

1 paper

NM_001034954.3

p.P244P

c.732A>T

1 paper

NM_001034954.3

p.S228Y

c.683C>A

1 paper

NM_001034954.3

p.A227T

c.679G>A

2 papers

NM_001034954.3

p.R226R

c.678C>T

1 paper

NM_001034954.3

p.V248I

c.742G>A

1 paper

NM_001290296.2

p.R217G

c.649C>G

NM_001034954.3

p.R226G

c.676C>G

1 paper

NM_001034954.3

p.A225V

c.674C>T