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

1–12 of 7653 variants

248 papers

NM_000251.3

p.Q314_G315Splc

c.942+3A>T

185 papers

NM_000251.3

p.A636P

c.1906G>C

154 papers

NM_000251.3

p.G322D

c.965G>A

121 papers

NM_000251.3

p.R680*

c.2038C>T

88 papers

NM_000251.3

p.R406*

c.1216C>T

80 papers

NM_000251.3

p.R389*

c.1165C>T

80 papers

NM_000251.3

p.R621*

c.1861C>T

79 papers

NM_000251.3

p.N596del1

c.1786_1787delAAT

78 papers

NM_000251.3

p.L390F

c.1168C>T

77 papers

NM_000251.3

p.R711*

c.2131C>T

64 papers

NM_000251.3

p.Y165C

c.494A>G

64 papers

NM_000251.3

p.G669Splc

c.2006-6T>C