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

18 papers

NM_000251.3

p.L341P

c.1022T>C

Surrounding Variants

1 paper

NM_000251.3

p.L341H

c.1022T>A

1 paper

NM_000251.3

p.L341R

c.1022T>G

1 paper

NM_000251.3

p.L341insFs

c.1021_1022ins4

2 papers

NM_000251.3

p.L341fs

c.1021_1022fs

1 paper

NM_000251.3

p.L341insFs

c.1023dupT

6 papers

NM_000251.3

p.L341V

c.1021C>G

3 papers

NM_000251.3

p.L341delFs

c.1023delT

1 paper

NM_000251.3

p.L341_V342delFs

c.1022_1025del4

2 papers

NM_000251.3

p.L341L

c.1023T>G

1 paper

NM_000251.3

p.L341_V342insFs

c.1023_1024insA

2 papers

NM_000251.3

p.V342delFs

c.1024delG

1 paper

NM_000251.3

p.V342_N343delFs

c.1024_1027del4