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.L819V

c.2455T>G

Surrounding Variants

1 paper

NM_006939.4

p.S816Y

c.2447C>A

4 papers

NM_006939.4

p.R824C

c.2470C>T

1 paper

NM_006939.4

p.T830_L831insFs

c.2490_2491insT

1 paper

NM_006939.4

p.V847G

c.2540T>G

1 paper

NM_006939.4

p.Q861R

c.2582A>G

1 paper

NM_006939.4

p.L793I

c.2377C>A

1 paper

NM_006939.4

p.L788R

c.2363T>G

1 paper

NM_006939.4

p.F769I

c.2305T>A

1 paper

NM_006939.4

p.Q768H

c.2304G>T

1 paper

NM_006939.4

p.Q768H

c.2304G>C

1 paper

NM_006939.4

p.F752Y

c.2255T>A

1 paper

NM_006939.4

p.I750T

c.2249T>C