Varaico: Literature-Extracted Genetic Variants

STARD13

154 papers

RefSeq Summary

This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and...

Pfam Domains

SAM_2aa 59–120UCSCSAM domain (Sterile alpha motif)

RhoGAPaa 677–822UCSCRhoGAP domain

STARTaa 908–1103UCSCSTART domain

Gene Aliases

HGNC Name

StAR related lipid transfer domain containing 13

HGNC Previous Symbol

LINC00464

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_178006.4

p.R383P

c.1148G>C

Surrounding Variants

1 paper

NM_178006.4

p.V395M

c.1183G>A

1 paper

NM_178006.4

p.H396Y

c.1186C>T

1 paper

NM_178006.4

p.D368H

c.1102G>C

1 paper

NM_178006.4

p.H401R

c.1202A>G

1 paper

NM_178006.4

p.E365K

c.1093G>A

1 paper

NM_178006.4

p.G404E

c.1211G>A

1 paper

NM_178006.4

p.G360R

c.1078G>C

1 paper

NM_178006.4

p.S411C

c.1232C>G

1 paper

NM_178006.4

p.C347_K352delFs

c.1039_1055del17

1 paper

NM_178006.4

p.T345_R351delFs

c.1034_1053del20

1 paper

NM_178006.4

p.T345_K349del0

c.1035_1046del12

1 paper

NM_178006.4

p.C347_K349delFs

c.1039_1046del8