Varaico: Literature-Extracted Genetic Variants

MSH4

207 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombinati...

Pfam Domains

MutS_IIaa 155–298UCSCMutS domain II

MutS_IIIaa 315–627UCSCMutS domain III

MutS_IVaa 493–587UCSCMutS family domain IV

MutS_Vaa 676–869UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 4

HGNC Previous Names

mutS (E. coli) homolog 4; mutS homolog 4 (E. coli)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_002440.4

p.Q518*

c.1552C>T

Surrounding Variants

1 paper

NM_002440.4

p.M515I

c.1545G>A

1 paper

NM_002440.4

p.M515I

c.1545G>C

1 paper

NM_002440.4

p.M515I

c.1545G>T

1 paper

NM_002440.4

p.E521K

c.1561G>A

3 papers

NM_002440.4

p.Y523Y

c.1569T>C

2 papers

NM_002440.4

p.L525L

c.1575A>T

1 paper

NM_002440.4

p.R535*

c.1603C>T

1 paper

NM_002440.4

p.R535L

c.1604G>T

1 paper

NM_002440.4

p.T543A

c.1627A>G

1 paper

NM_002440.4

p.T543K

c.1628C>A

1 paper

NM_002440.4

p.P554T

c.1660C>A

1 paper

NM_002440.4

p.K559_I560Splc

c.1677+13G>A