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

1 paper

NM_002440.4

p.G58G

c.174A>T

Surrounding Variants

1 paper

NM_002440.4

p.G58G

c.174A>G

1 paper

NM_002440.4

p.A60G

c.179C>G

2 papers

NM_002440.4

p.A60V

c.179C>T

1 paper

NM_002440.4

p.P54S

c.160C>T

1 paper

NM_002440.4

p.S64del1

c.190_191delAGC

1 paper

NM_002440.4

p.P71_C72insCCA

c.211_215ins9

1 paper

NM_002440.4

p.V45_Q46delFs

c.135_136delCC

1 paper

NM_002440.4

p.P75_A80insFs

c.224_240dup17

5 papers

NM_002440.4

p.Q40*

c.118C>T

2 papers

NM_002440.4

p.R78W

c.232C>T

1 paper

NM_002440.4

p.P79L

c.236C>T

1 paper

NM_002440.4

p.Q36Q

c.108G>A