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.K6_T8del0

c.16_24del9

Surrounding Variants

1 paper

NM_000251.3

p.P5fs

c.13_14fs

2 papers

NM_000251.3

p.P5A

c.13C>G

1 paper

NM_000251.3

p.P5S

c.13C>T

1 paper

NM_000251.3

p.P5fs

c.13_14fs

3 papers

NM_000251.3

p.P5_Q10delFs

c.15_28del14

38 papers

NM_000251.3

p.P5Q

c.14C>A

2 papers

NM_000251.3

p.P5R

c.14C>G

3 papers

NM_000251.3

p.P5L

c.14C>T

1 paper

NM_000251.3

p.K6_E7delFs

c.17_20del4

1 paper

NM_000251.3

p.P5_T8delFs

c.15_22del8

15 papers

NM_000251.3

p.Q4Q

c.12G>A

19 papers

NM_000251.3

p.Q4H

c.12G>C