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

3 papers

NM_001017995.3

p.Y25_V26Splc

c.76-2A>C

Surrounding Variants

1 paper

NM_001017995.3

p.S34F

c.101C>T

1 paper

NM_001017995.3

p.S35S

c.105C>T

1 paper

NM_001017995.3

p.T38N

c.113C>A

1 paper

NM_001017995.3

p.E39*

c.115G>T

9 papers

NM_001017995.3

p.R43W

c.127C>T

1 paper

NM_001017995.3

p.R43Q

c.128G>A

4 papers

NM_001017995.3

p.F49_D50insFs

c.147_148insT