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.D182_Q183del2

c.544_548del6

Surrounding Variants

1 paper

NM_000251.3

p.N181K

c.543T>G

1 paper

NM_000251.3

p.N181delFs

c.543delT

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

1 paper

NM_000251.3

p.D182_P196delFs

c.546_588del43

1 paper

NM_000251.3

p.N181_D182insC

c.541_545ins3

1 paper

NM_000251.3

p.D182V

c.545A>T

3 papers

NM_000251.3

p.D180D

c.540T>C