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.D164G

c.491A>G

Surrounding Variants

1 paper

NM_007349.4

p.D164A

c.491A>C

3 papers

NM_007349.4

p.W165R

c.493T>C

3 papers

NM_007349.4

p.W165R

c.493T>A

2 papers

NM_007349.4

p.K148R

c.443A>G

1 paper

NM_007349.4

p.F180delFs

c.539_540delAA

1 paper

NM_007349.4

p.P183delFs

c.548delG

1 paper

NM_007349.4

p.P220L

c.659C>T

3 papers

NM_007349.4

p.P268L

c.803C>T

1 paper

NM_007349.4

p.R280K

c.839G>A

1 paper

NM_007349.4

p.L289F

c.867G>T

1 paper

NM_007349.4

p.L289F

c.867G>C

1 paper

NM_007349.4

p.N295S

c.884A>G