Varaico: Literature-Extracted Genetic Variants

PWWP3B

39 papers

RefSeq Summary

This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple al...

Pfam Domains

PWP3A-B_Naa 5–99UCSCPWWP domain-containing DNA repair factor 3A/B, N-terminal

MUM1-like_PWWPaa 390–469UCSCMUM1-like, PWWP domain

PWP3A-B_Caa 498–689UCSCPWWP domain-containing DNA repair factor 3A/B, C-terminal

Gene Aliases

HGNC Name

PWWP domain containing 3B

HGNC Previous Symbol

MUM1L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001171020.2

p.R688*

c.2062C>T

Surrounding Variants

1 paper

NM_001171020.2

p.R688Q

c.2063G>A

1 paper

NM_001171020.2

p.R673_E674del2

c.2017_2021del6

1 paper

NM_001171020.2

p.K634*

c.1900A>T

1 paper

NM_001171020.2

p.D621N

c.1861G>A

1 paper

NM_001171020.2

p.Q614K

c.1840C>A

1 paper

NM_001171020.2

p.S580C

c.1739C>G

1 paper

NM_001171020.2

p.D558Y

c.1672G>T

1 paper

NM_001171020.2

p.A547T

c.1639G>A

1 paper

NM_001171020.2

p.K516N

c.1548G>C

1 paper

NM_001171020.2

p.K516N

c.1548G>T

1 paper

NM_001171020.2

p.D496Y

c.1486G>T

1 paper

NM_001171020.2

p.W468*

c.1404G>A