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

1–12 of 697 variants

21 papers

NM_002440.4

p.S754L

c.2261C>T

16 papers

NM_002440.4

p.A97T

c.289G>A

13 papers

NM_002440.4

p.S733*

c.2198C>A

12 papers

NM_002440.4

p.Y589C

c.1766A>G

12 papers

NM_002440.4

p.M740_K741delFs

c.2220_2223del4

12 papers

NM_002440.4

p.K785_A786Splc

c.2355+1G>A

12 papers

NM_002440.4

p.S914N

c.2741G>A

11 papers

NM_002440.4

p.P638L

c.1913C>T

11 papers

NM_002440.4

p.S733*

c.2198C>G

10 papers

NM_002440.4

p.Q518*

c.1552C>T

9 papers

NM_002440.4

p.W650*

c.1950G>A

8 papers

NM_002440.4

p.G82S

c.244G>A