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.Q159K

c.475C>A

Surrounding Variants

1 paper

NM_006939.4

p.D161N

c.481G>A

3 papers

NM_006939.4

p.R153Q

c.458G>A

1 paper

NM_006939.4

p.F150Y

c.449T>A

1 paper

NM_006939.4

p.K143I

c.428A>T

1 paper

NM_006939.4

p.K143T

c.428A>C

1 paper

NM_006939.4

p.Y136C

c.407A>G

1 paper

NM_006939.4

p.Y136H

c.406T>C

1 paper

NM_006939.4

p.S127F

c.380C>T

1 paper

NM_006939.4

p.Y124C

c.371A>G

1 paper

NM_006939.4

p.D123Y

c.367G>T

1 paper

NM_006939.4

p.Y120*

c.360C>G

1 paper

NM_006939.4

p.Y120*

c.360C>A