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.Q718H

c.2154G>C

Surrounding Variants

1 paper

NM_002440.4

p.Q718H

c.2154G>T

1 paper

NM_002440.4

p.F720_I723del4

c.2158_2168del12

1 paper

NM_002440.4

p.K717insFs

c.2150_2151ins32

1 paper

NM_002440.4

p.A716V

c.2147C>T

8 papers

NM_002440.4

p.D727delFs

c.2179delG

1 paper

NM_002440.4

p.D727H

c.2179G>C

5 papers

NM_002440.4

p.D727fs

c.2179_2180fs

1 paper

NM_002440.4

p.D727G

c.2180A>G

3 papers

NM_002440.4

p.E730K

c.2188G>A

13 papers

NM_002440.4

p.S733*

c.2198C>A

11 papers

NM_002440.4

p.S733*

c.2198C>G

1 paper

NM_002440.4

p.T735_F736insFs

c.2205_2206ins7