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.Q357*

c.1069C>T

Surrounding Variants

1 paper

NM_006939.4

p.A374S

c.1120G>T

11 papers

NM_006939.4

p.T376S

c.1126A>T

12 papers

NM_006939.4

p.T376S

c.1127C>G

1 paper

NM_006939.4

p.D386Y

c.1156G>T

1 paper

NM_006939.4

p.K390R

c.1169A>G

1 paper

NM_006939.4

p.R395insFs

c.1183_1184insAT

1 paper

NM_006939.4

p.R397G

c.1189C>G

1 paper

NM_006939.4

p.P401R

c.1202C>G

1 paper

NM_006939.4

p.V402A

c.1205T>C

1 paper

NM_006939.4

p.H408R

c.1223A>G

1 paper

NM_006939.4

p.S412R

c.1234A>C

1 paper

NM_006939.4

p.S412R

c.1236C>G