Varaico: Literature-Extracted Genetic Variants

PAXIP1

125 papers

RefSeq Summary

This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome...

Pfam Domains

PTCB-BRCTaa 102–165UCSCtwin BRCT domain

BRCTaa 601–681UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 701–776UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 866–934UCSCBRCA1 C Terminus (BRCT) domain

BRCT_2aa 971–1067UCSCBRCT domain

Gene Aliases

HGNC Name

PAX interacting protein 1

HGNC Previous Symbol

PAXIP1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007349.4

p.A458D

c.1373C>A

Surrounding Variants

1 paper

NM_007349.4

p.Q452fs

c.1354_1355fs

1 paper

NM_007349.4

p.Q474R

c.1421A>G

1 paper

NM_007349.4

p.P441A

c.1321C>G

1 paper

NM_007349.4

p.P478insFs

c.1432_1433ins5

1 paper

NM_007349.4

p.P478fs

c.1432_1433fs

1 paper

NM_007349.4

p.P478insFs

c.1433_1434insA

1 paper

NM_007349.4

p.Q479fs

c.1435_1436fs

1 paper

NM_007349.4

p.Q434del1

c.1300_1301delCTG

1 paper

NM_007349.4

p.Q423delFs

c.1267delG

1 paper

NM_007349.4

p.Q423fs

c.1267_1268fs

1 paper

NM_007349.4

p.P421fs

c.1261_1262fs

1 paper

NM_007349.4

p.P421S

c.1261C>T