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

1–12 of 133 variants

9 papers

NM_001017995.3

p.R43W

c.127C>T

6 papers

NM_001017995.3

p.G323delFs

c.969delC

5 papers

NM_001017995.3

p.R94G

c.280C>G

5 papers

NM_001017995.3

p.R324fs

c.970_971fs

4 papers

NM_001017995.3

p.F49_D50insFs

c.147_148insT

3 papers

NM_001017995.3

p.Y25_V26Splc

c.76-2A>C

3 papers

NM_001017995.3

p.R84*

c.250C>T

3 papers

NM_001017995.3

p.W269*

c.806G>A

3 papers

NM_001017995.3

p.W269*

c.807G>A

3 papers

NM_001017995.3

p.A272T

c.814G>A

3 papers

NM_001017995.3

p.D299fs

c.895_896fs

2 papers

NM_001017995.3

p.R94C

c.280C>T