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

3 papers

NM_000251.3

p.A53A

c.159C>T

Surrounding Variants

1 paper

NM_000251.3

p.A53A

c.159C>G

3 papers

NM_000251.3

p.A54delFs

c.160delG

2 papers

NM_000251.3

p.A53D

c.158C>A

2 papers

NM_000251.3

p.A53G

c.158C>G

1 paper

NM_000251.3

p.A53V

c.158C>T

6 papers

NM_000251.3

p.A54T

c.160G>A

1 paper

NM_000251.3

p.A54P

c.160G>C

2 papers

NM_000251.3

p.A54fs

c.160_161fs

4 papers

NM_000251.3

p.A54S

c.160G>T

9 papers

NM_000251.3

p.R55delFs

c.163delC

1 paper

NM_000251.3

p.A54fs

c.160_161fs

1 paper

NM_000251.3

p.A54_T60del0

c.162_179del18