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

1 paper

NM_001171020.2

p.L254F

c.762G>C

Surrounding Variants

1 paper

NM_001171020.2

p.L254F

c.762G>T

1 paper

NM_001171020.2

p.E259K

c.775G>A

1 paper

NM_001171020.2

p.L248fs

c.742_743fs

1 paper

NM_001171020.2

p.L248delFs

c.742delC

1 paper

NM_001171020.2

p.S245L

c.734C>T

1 paper

NM_001171020.2

p.P238P

c.714A>G

1 paper

NM_001171020.2

p.P238L

c.713C>T

1 paper

NM_001171020.2

p.E234K

c.700G>A

1 paper

NM_001171020.2

p.E234insFs

c.701dupA

1 paper

NM_001171020.2

p.K225fs

c.673_674fs

1 paper

NM_001171020.2

p.K225delFs

c.673_674delAA

1 paper

NM_001171020.2

p.G285C

c.853G>T