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.R202Splc

c.606-92G>T

Surrounding Variants

1 paper

NM_025128.5

p.L224_L225insA

c.670_674ins3

1 paper

NM_025128.5

p.V241E

c.722T>A

2 papers

NM_025128.5

p.L189F

c.565C>T

1 paper

NM_025128.5

p.L185L

c.555C>T

5 papers

NM_025128.5

p.R180P

c.539G>C

1 paper

NM_025128.5

p.A179A

c.537T>C

1 paper

NM_025128.5

p.E277G

c.830A>G

4 papers

NM_025128.5

p.R279Q

c.836G>A

1 paper

NM_025128.5

p.A175_P176insFs

c.525_526insC

2 papers

NM_025128.5

p.Q292R

c.875A>G

1 paper

NM_025128.5

p.R293W

c.877C>T

1 paper

NM_025128.5

p.R293Q

c.878G>A