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.T449A

c.1345A>G

Surrounding Variants

1 paper

NM_006939.4

p.I451I

c.1353C>A

1 paper

NM_006939.4

p.N440S

c.1319A>G

1 paper

NM_006939.4

p.L461L

c.1381C>T

1 paper

NM_006939.4

p.D434Y

c.1300G>T

1 paper

NM_006939.4

p.D434H

c.1300G>C

1 paper

NM_006939.4

p.G464V

c.1391G>T

1 paper

NM_006939.4

p.E431K

c.1291G>A

1 paper

NM_006939.4

p.H473N

c.1417C>A

1 paper

NM_006939.4

p.M420I

c.1260G>T

1 paper

NM_006939.4

p.M420I

c.1260G>C

1 paper

NM_006939.4

p.R477Q

c.1430G>A

1 paper

NM_006939.4

p.M420I

c.1260G>A