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

2 papers

NM_000251.3

p.E701*

c.2101G>T

Surrounding Variants

5 papers

NM_000251.3

p.E701K

c.2101G>A

1 paper

NM_000251.3

p.E701insFs

c.2102dupA

1 paper

NM_000251.3

p.E701fs

c.2101_2102fs

1 paper

NM_000251.3

p.E701fs

c.2101_2102fs

2 papers

NM_000251.3

p.V702_V712del0

c.2106_2135del30

5 papers

NM_000251.3

p.A700E

c.2099C>A

4 papers

NM_000251.3

p.A700delFs

c.2100delA

2 papers

NM_000251.3

p.A700T

c.2098G>A

1 paper

NM_000251.3

p.A700P

c.2098G>C

1 paper

NM_000251.3

p.V702_S703insT

c.2104_2108ins3

1 paper

NM_000251.3

p.A700delFs

c.2099delC

1 paper

NM_000251.3

p.A700_E701delFs

c.2099_2102del4