Varaico: Literature-Extracted Genetic Variants

SOS2

221 papers

RefSeq Summary

This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016].

Pfam Domains

RhoGEFaa 203–386UCSCRhoGEF domain

SOS1_NGEF_PHaa 437–542UCSCSOS1/NGEF-like PH domain

RasGEF_Naa 598–715UCSCRasGEF N-terminal motif

RasGEFaa 781–960UCSCRasGEF domain

Gene Aliases

HGNC Name

SOS Ras/Rho guanine nucleotide exchange factor 2

HGNC Previous Names

son of sevenless (Drosophilia) homolog 2; son of sevenless homolog 2 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006939.4

p.I181I

c.543A>T

Surrounding Variants

1 paper

NM_006939.4

p.I181M

c.543A>G

1 paper

NM_006939.4

p.I181L

c.541A>T

1 paper

NM_006939.4

p.I181L

c.541A>C

1 paper

NM_006939.4

p.L183fs

c.547_548fs

1 paper

NM_006939.4

p.D180G

c.539A>G

1 paper

NM_006939.4

p.L183F

c.549G>T

1 paper

NM_006939.4

p.L183insFs

c.548dupT

1 paper

NM_006939.4

p.L183F

c.549G>C

1 paper

NM_006939.4

p.S185delFs

c.555delA

1 paper

NM_006939.4

p.L186fs

c.556_557fs

1 paper

NM_006939.4

p.E190D

c.570A>T

1 paper

NM_006939.4

p.E190D

c.570A>C