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.V702_V705delFs

c.2105_2114del10

Surrounding Variants

1 paper

NM_000251.3

p.V702_S703insT

c.2104_2108ins3

3 papers

NM_000251.3

p.V702E

c.2105T>A

4 papers

NM_000251.3

p.V702G

c.2105T>G

2 papers

NM_000251.3

p.V702_V712del0

c.2106_2135del30

1 paper

NM_000251.3

p.V702V

c.2106G>A

2 papers

NM_000251.3

p.V702_S703delins

c.2106_2107delinsTG

1 paper

NM_000251.3

p.S703_L709del7

c.2107_2126del21

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

2 papers

NM_000251.3

p.E701*

c.2101G>T

1 paper

NM_000251.3

p.E701fs

c.2101_2102fs