Varaico: Literature-Extracted Genetic Variants

SH3PXD2B

99 papers

RefSeq Summary

This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and m...

Pfam Domains

PXaa 31–125UCSCPX domain

SH3_1aa 158–203UCSCSH3 domain

SH3_1aa 227–272UCSCSH3 domain

SH3_1aa 374–419UCSCSH3 domain

SH3_2aa 854–909UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 and PX domains 2B

HGNC Previous Symbol

KIAA1295

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001017995.3

p.R94L

c.281G>T

Surrounding Variants

2 papers

NM_001017995.3

p.R94C

c.280C>T

5 papers

NM_001017995.3

p.R94G

c.280C>G

1 paper

NM_001017995.3

p.C102*

c.306T>A

3 papers

NM_001017995.3

p.R84*

c.250C>T

1 paper

NM_001017995.3

p.G78Splc

c.233-28A>G