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.R129I

c.386G>T

Surrounding Variants

1 paper

NM_002440.4

p.G131_T136delFs

c.391_407del17

1 paper

NM_002440.4

p.G131fs

c.391_392fs

1 paper

NM_002440.4

p.W135_T136del2

c.403_407del6

1 paper

NM_002440.4

p.L122*

c.365T>A

1 paper

NM_002440.4

p.P121L

c.362C>T

1 paper

NM_002440.4

p.P137L

c.410C>T

1 paper

NM_002440.4

p.P121_L122ins1

c.363_364insACA

1 paper

NM_002440.4

p.G140_Y141insFs

c.420_421insT

1 paper

NM_002440.4

p.D111A

c.332A>C

1 paper

NM_002440.4

p.S105C

c.313A>T

1 paper

NM_002440.4

p.G103R

c.307G>C

1 paper

NM_002440.4

p.A143Splc

c.427+47A>G