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.L52M

c.154C>A

Surrounding Variants

4 papers

NM_000251.3

p.L52insFs

c.154_155insG

2 papers

NM_000251.3

p.L52fs

c.154_155fs

4 papers

NM_000251.3

p.L52V

c.154C>G

2 papers

NM_000251.3

p.L52L

c.154C>T

1 paper

NM_000251.3

p.L52delFs

c.155_156delTG

2 papers

NM_000251.3

p.L52fs

c.154_155fs

1 paper

NM_000251.3

p.L51_L52insFs

c.153_154insC

1 paper

NM_000251.3

p.L52_R55delFs

c.154_163del10

1 paper

NM_000251.3

p.L52Q

c.155T>A

2 papers

NM_000251.3

p.L52P

c.155T>C

1 paper

NM_000251.3

p.L52R

c.155T>G

2 papers

NM_000251.3

p.A53insFs

c.157dupG