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.E825E

c.2475A>G

Surrounding Variants

1 paper

NM_002440.4

p.E825*

c.2473G>T

1 paper

NM_002440.4

p.I827N

c.2480T>A

1 paper

NM_002440.4

p.S821S

c.2463A>C

1 paper

NM_002440.4

p.Y831C

c.2492A>G

1 paper

NM_002440.4

p.K818N

c.2454G>C

1 paper

NM_002440.4

p.K818N

c.2454G>T

2 papers

NM_002440.4

p.Q815R

c.2444A>G

1 paper

NM_002440.4

p.G836V

c.2507G>T

1 paper

NM_002440.4

p.E839K

c.2515G>A

3 papers

NM_002440.4

p.E840D

c.2520G>C

3 papers

NM_002440.4

p.E840D

c.2520G>T

1 paper

NM_002440.4

p.N842T

c.2525A>C