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

2 papers

NM_002440.4

p.Q815R

c.2444A>G

Surrounding Variants

1 paper

NM_002440.4

p.K818N

c.2454G>C

1 paper

NM_002440.4

p.K818N

c.2454G>T

1 paper

NM_002440.4

p.S821S

c.2463A>C

1 paper

NM_002440.4

p.E808Q

c.2422G>C

1 paper

NM_002440.4

p.V807I

c.2419G>A

1 paper

NM_002440.4

p.E825*

c.2473G>T

1 paper

NM_002440.4

p.E825E

c.2475A>G

8 papers

NM_002440.4

p.P805_F812del8

c.2413_2435del24

1 paper

NM_002440.4

p.Y804N

c.2410T>A

1 paper

NM_002440.4

p.I827N

c.2480T>A

1 paper

NM_002440.4

p.Y831C

c.2492A>G

1 paper

NM_002440.4

p.C798*

c.2394C>A