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

5 papers

NM_002440.4

p.Q40*

c.118C>T

Surrounding Variants

1 paper

NM_002440.4

p.Q36Q

c.108G>A

1 paper

NM_002440.4

p.L35I

c.103C>A

1 paper

NM_002440.4

p.V45_Q46delFs

c.135_136delCC

1 paper

NM_002440.4

p.G34V

c.101G>T

1 paper

NM_002440.4

p.R30H

c.89G>A

2 papers

NM_002440.4

p.R30P

c.89G>C

1 paper

NM_002440.4

p.P29L

c.86C>T

2 papers

NM_002440.4

p.P29S

c.85C>T

1 paper

NM_002440.4

p.P26L

c.77C>T

1 paper

NM_002440.4

p.P26T

c.76C>A

2 papers

NM_002440.4

p.P26S

c.76C>T

1 paper

NM_002440.4

p.P54S

c.160C>T