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.N666_T667ins1

c.1998_1999insAAG

Surrounding Variants

1 paper

NM_002440.4

p.N666H

c.1996A>C

1 paper

NM_002440.4

p.N665insFs

c.1994_1995insGC

1 paper

NM_002440.4

p.N665fs

c.1993_1994fs

1 paper

NM_002440.4

p.A664V

c.1991C>T

1 paper

NM_002440.4

p.G672W

c.2014G>T

1 paper

NM_002440.4

p.E660K

c.1978G>A

1 paper

NM_002440.4

p.E660insFs

c.1978_1979insTT

1 paper

NM_002440.4

p.A659S

c.1975G>T

2 papers

NM_002440.4

p.I678_P681del4

c.2032_2042del12

1 paper

NM_002440.4

p.E655insFs

c.1963_1964ins5

1 paper

NM_002440.4

p.I653I

c.1959T>C

1 paper

NM_002440.4

p.P681_N682insFs

c.2043_2044insA