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.E27A

c.80A>C

Surrounding Variants

1 paper

NM_025128.5

p.L25P

c.74T>C

1 paper

NM_025128.5

p.P17L

c.50C>T

3 papers

NM_025128.5

p.R37H

c.110G>A

4 papers

NM_025128.5

p.R38G

c.112C>G

1 paper

NM_025128.5

p.R38L

c.113G>T

1 paper

NM_025128.5

p.V42A

c.125T>C

1 paper

NM_025128.5

p.V42V

c.126A>T

1 paper

NM_025128.5

p.K10T

c.29A>C

1 paper

NM_025128.5

p.G8D

c.23G>A

1 paper

NM_025128.5

p.R6delFs

c.18delC

1 paper

NM_025128.5

p.V5fs

c.13_14fs

1 paper

NM_025128.5

p.P4L

c.11C>T