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

3 papers

NM_006939.4

p.A4A

c.12G>A

Surrounding Variants

1 paper

NM_006939.4

p.A4A

c.12G>C

1 paper

NM_006939.4

p.Q2insFs

c.6dupG

1 paper

NM_006939.4

p.P7S

c.19C>T

1 paper

NM_006939.4

p.M1K

c.2T>A

1 paper

NM_006939.4

p.M1L

c.1A>C

1 paper

NM_006939.4

p.E9G

c.26A>G

1 paper

NM_006939.4

p.E9delFs

c.27delC

1 paper

NM_006939.4

p.G21R

c.61G>C

1 paper

NM_006939.4

p.G21R

c.61G>A