Varaico: Literature-Extracted Genetic Variants

Gene:SGSM3
Variant:p.R436W

SGSM3

56 papers

Pfam Domains

RabGAP-TBCaa 117–325UCSCRab-GTPase-TBC domain
SH3_1aa 486–531UCSCSH3 domain
RUNaa 563–717UCSCRUN domain

Gene Aliases

HGNC Name

small G protein signaling modulator 3

HGNC Previous Symbol

RUTBC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015705.6
p.R436W
c.1306C>T
Surrounding Variants
1 paper
NM_015705.6
p.K452fs
c.1354_1355fs
1 paper
NM_015705.6
p.N453fs
c.1357_1358fs
1 paper
NM_015705.6
p.E472K
c.1414G>A
1 paper
NM_015705.6
p.D495N
c.1483G>A
1 paper
NM_015705.6
p.E515K
c.1543G>A
1 paper
NM_015705.6
p.N523T
c.1568A>C
1 paper
NM_015705.6
p.G524S
c.1570G>A
2 papers
NM_015705.6
p.R526*
c.1576C>T
1 paper
NM_015705.6
p.R526Q
c.1577G>A
1 paper
NM_015705.6
p.L393fs
c.1177_1178fs
1 paper
NM_015705.6
p.L393delFs
c.1177_1178delCT
1 paper
NM_015705.6
p.T389S
c.1166C>G
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