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.F384insFs

c.1151dupT

Surrounding Variants

1 paper

NM_000251.3

p.F384delFs

c.1150delT

1 paper

NM_000251.3

p.F384delFs

c.1150_1151delTT

1 paper

NM_000251.3

p.R383Q

c.1148G>A

1 paper

NM_000251.3

p.R383P

c.1148G>C

3 papers

NM_000251.3

p.R383L

c.1148G>T

1 paper

NM_000251.3

p.F384L

c.1150T>C

2 papers

NM_000251.3

p.R383R

c.1147C>A

60 papers

NM_000251.3

p.R383*

c.1147C>T

1 paper

NM_000251.3

p.R383delFs

c.1148delG

3 papers

NM_000251.3

p.F384Y

c.1151T>A

1 paper

NM_000251.3

p.F384C

c.1151T>G

2 papers

NM_000251.3

p.P385delFs

c.1154delC