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

12 papers

NM_002440.4

p.K785_A786Splc

c.2355+1G>A

Surrounding Variants

1 paper

NM_002440.4

p.S783G

c.2347A>G

1 paper

NM_002440.4

p.G772fs

c.2314_2315fs

1 paper

NM_002440.4

p.E768_E769delFs

c.2303_2306del4

1 paper

NM_002440.4

p.G764D

c.2291G>A

1 paper

NM_002440.4

p.G764S

c.2290G>A

21 papers

NM_002440.4

p.S754L

c.2261C>T

1 paper

NM_002440.4

p.K785_A786Splc

c.2355+139G>A

1 paper

NM_002440.4

p.K785_A786Splc

c.2355+1243A>C

1 paper

NM_002440.4

p.E742G

c.2225A>G

1 paper

NM_002440.4

p.K741R

c.2222A>G

1 paper

NM_002440.4

p.K741fs

c.2221_2222fs

6 papers

NM_002440.4

p.K741fs

c.2221_2222fs