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.D269N

c.805G>A

Surrounding Variants

8 papers

NM_006939.4

p.M267R

c.800T>G

5 papers

NM_006939.4

p.M267T

c.800T>C

11 papers

NM_006939.4

p.M267K

c.800T>A

2 papers

NM_006939.4

p.E266_M267delins

c.798_800delinsCAA

2 papers

NM_006939.4

p.S271G

c.811A>G

3 papers

NM_006939.4

p.T264R

c.791C>G

7 papers

NM_006939.4

p.T264K

c.791C>A

2 papers

NM_006939.4

p.G259S

c.775G>A

1 paper

NM_006939.4

p.K256R

c.767A>G

1 paper

NM_006939.4

p.L284fs

c.850_851fs

1 paper

NM_006939.4

p.L284delFs

c.851delA

1 paper

NM_006939.4

p.H251D

c.751C>G