Varaico: Literature-Extracted Genetic Variants

MUS81

131 papers

RefSeq Summary

This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair afte...

Pfam Domains

HHH_8aa 16–86UCSCHelix-hairpin-helix domain

WHD_MUS81aa 132–216UCSCCrossover junction endonuclease MUS81-like, winged helix domain

ERCC4aa 273–415UCSCERCC4 domain

EME1-MUS81_Caa 474–541UCSCEME1/MUS81, C-terminal

Gene Aliases

HGNC Name

MUS81 structure-specific endonuclease subunit

HGNC Alias Symbols

FLJ44872; SLX3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025128.5

p.L415*

c.1244T>A

Surrounding Variants

1 paper

NM_025128.5

p.T416T

c.1248G>T

1 paper

NM_025128.5

p.A413T

c.1237G>A

1 paper

NM_025128.5

p.G418R

c.1252G>C

1 paper

NM_025128.5

p.L412L

c.1234C>T

3 papers

NM_025128.5

p.A410T

c.1228G>A

1 paper

NM_025128.5

p.S408L

c.1223C>T

1 paper

NM_025128.5

p.A403delFs

c.1209delA

1 paper

NM_025128.5

p.D395A

c.1184A>C

1 paper

NM_025128.5

p.N390H

c.1168A>C

1 paper

NM_025128.5

p.V388I

c.1162G>A

1 paper

NM_025128.5

p.T383R

c.1148C>G

1 paper

NM_025128.5

p.H375N

c.1123C>A