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

5 papers

NM_007349.4

p.Q548del1

c.1642_1643delCTG

Surrounding Variants

1 paper

NM_007349.4

p.M549fs

c.1645_1646fs

1 paper

NM_007349.4

p.H541Q

c.1623C>G

1 paper

NM_007349.4

p.H541Q

c.1623C>A

1 paper

NM_007349.4

p.R539_M540del2

c.1615_1619del6

1 paper

NM_007349.4

p.R539_M540del1

c.1616_1618delTGC

1 paper

NM_007349.4

p.L537F

c.1609C>T

1 paper

NM_007349.4

p.P573fs

c.1717_1718fs

1 paper

NM_007349.4

p.S522I

c.1565G>T

1 paper

NM_007349.4

p.H507P

c.1520A>C

1 paper

NM_007349.4

p.L591R

c.1772T>G

1 paper

NM_007349.4

p.H502_Q505del4

c.1504_1514del12

1 paper

NM_007349.4

p.Q498R

c.1493A>G