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.E922fs

c.2764_2765fs

Surrounding Variants

1 paper

NM_002440.4

p.K921_P925delFs

c.2762_2775del14

1 paper

NM_002440.4

p.P925_E928delFs

c.2775_2784del10

1 paper

NM_002440.4

p.R926fs

c.2776_2777fs

12 papers

NM_002440.4

p.S914N

c.2741G>A

1 paper

NM_002440.4

p.R910Q

c.2729G>A

4 papers

NM_002440.4

p.R910*

c.2728C>T

1 paper

NM_002440.4

p.P906Q

c.2717C>A

1 paper

NM_002440.4

p.S902P

c.2704T>C

1 paper

NM_002440.4

p.R900Q

c.2699G>A

3 papers

NM_002440.4

p.R900*

c.2698C>T

1 paper

NM_002440.4

p.H890R

c.2669A>G

1 paper

NM_002440.4

p.R886fs

c.2656_2657fs