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.S561P

c.1681T>C

Surrounding Variants

7 papers

NM_002440.4

p.K562delFs

c.1686delA

1 paper

NM_002440.4

p.K564E

c.1690A>G

1 paper

NM_002440.4

p.A572S

c.1714G>T

1 paper

NM_002440.4

p.L574V

c.1720T>G

1 paper

NM_002440.4

p.L574S

c.1721T>C

1 paper

NM_002440.4

p.R580K

c.1739G>A

1 paper

NM_002440.4

p.E583*

c.1747G>T

1 paper

NM_002440.4

p.S584C

c.1751C>G

12 papers

NM_002440.4

p.Y589C

c.1766A>G

1 paper

NM_002440.4

p.Y593H

c.1777T>C

1 paper

NM_002440.4

p.K559_I560Splc

c.1678-95G>T

1 paper

NM_002440.4

p.M594Splc

c.1781+46T>A