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

3 papers

NM_000251.3

p.R340G

c.1018A>G

Surrounding Variants

2 papers

NM_000251.3

p.R340fs

c.1018_1019fs

2 papers

NM_000251.3

p.R340*

c.1018A>T

1 paper

NM_000251.3

p.R340fs

c.1018_1019fs

1 paper

NM_000251.3

p.R340T

c.1019G>C

1 paper

NM_000251.3

p.L341_N343delFs

c.1022_1029del8

1 paper

NM_000251.3

p.R340S

c.1020A>C

2 papers

NM_000251.3

p.Q339R

c.1016A>G

1 paper

NM_000251.3

p.R340S

c.1020A>T

1 paper

NM_000251.3

p.R340_R355del16

c.1018_1064del48

2 papers

NM_000251.3

p.L341delFs

c.1021delC

1 paper

NM_000251.3

p.L341_V342del2

c.1021_1025del6

1 paper

NM_000251.3

p.Q339K

c.1015C>A