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

8 papers

NM_000251.3

p.Q183*

c.547C>T

Surrounding Variants

1 paper

NM_000251.3

p.Q183K

c.547C>A

1 paper

NM_000251.3

p.Q183E

c.547C>G

3 papers

NM_000251.3

p.Q183R

c.548A>G

1 paper

NM_000251.3

p.D182V

c.545A>T

6 papers

NM_000251.3

p.F184delFs

c.551delT

1 paper

NM_000251.3

p.F184_L190del7

c.550_569del21

1 paper

NM_000251.3

p.D182H

c.544G>C

1 paper

NM_000251.3

p.D182_Q183ins4

c.544_548ins12

1 paper

NM_000251.3

p.D182insFs

c.544_545insT

1 paper

NM_000251.3

p.D182Y

c.544G>T

2 papers

NM_000251.3

p.D182fs

c.544_545fs

1 paper

NM_000251.3

p.D182_F184delFs

c.545_552del8