Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.T724T

c.2172G>A

Surrounding Variants

1 paper

NM_000251.3

p.T724R

c.2171C>G

2 papers

NM_000251.3

p.T724M

c.2171C>T

2 papers

NM_000251.3

p.F725_M726insC

c.2173_2177ins3

1 paper

NM_000251.3

p.T724A

c.2170A>G

1 paper

NM_000251.3

p.S723S

c.2169C>A

1 paper

NM_000251.3

p.S723S

c.2169C>G

1 paper

NM_000251.3

p.M726delFs

c.2176_2177delAT

1 paper

NM_000251.3

p.F725_M729Fs

c.2175_2185delinsGFs

2 papers

NM_000251.3

p.M726V

c.2176A>G

1 paper

NM_000251.3

p.A727_E728delFs

c.2179_2182del4

1 paper

NM_000251.3

p.A727_L730del4

c.2179_2189del12

3 papers

NM_000251.3

p.S723Y

c.2168C>A