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

9 papers

NM_002440.4

p.W650*

c.1950G>A

Surrounding Variants

7 papers

NM_002440.4

p.W650*

c.1949G>A

1 paper

NM_002440.4

p.G649E

c.1946G>A

1 paper

NM_002440.4

p.I653I

c.1959T>C

1 paper

NM_002440.4

p.E655insFs

c.1963_1964ins5

1 paper

NM_002440.4

p.A659S

c.1975G>T

1 paper

NM_002440.4

p.E660K

c.1978G>A

1 paper

NM_002440.4

p.E660insFs

c.1978_1979insTT

11 papers

NM_002440.4

p.P638L

c.1913C>T

1 paper

NM_002440.4

p.R637*

c.1909C>T

1 paper

NM_002440.4

p.A664V

c.1991C>T

1 paper

NM_002440.4

p.R637delFs

c.1910delG

1 paper

NM_002440.4

p.N665fs

c.1993_1994fs