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

6 papers

NM_001017995.3

p.G323delFs

c.969delC

Surrounding Variants

5 papers

NM_001017995.3

p.R324fs

c.970_971fs

1 paper

NM_001017995.3

p.R324W

c.970C>T

1 paper

NM_001017995.3

p.P329L

c.986C>T

1 paper

NM_001017995.3

p.D332N

c.994G>A

1 paper

NM_001017995.3

p.G333S

c.997G>A

1 paper

NM_001017995.3

p.D334D

c.1002C>T

1 paper

NM_001017995.3

p.E313*

c.937G>T

1 paper

NM_001017995.3

p.K336E

c.1006A>G

1 paper

NM_001017995.3

p.S304fs

c.910_911fs

3 papers

NM_001017995.3

p.D299fs

c.895_896fs

2 papers

NM_001017995.3

p.L298delFs

c.892delG

1 paper

NM_001017995.3

p.G296S

c.886G>A