Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.C1241_L1244del4

c.3721_3731del12

Surrounding Variants

2 papers

NM_000179.3

p.K1240K

c.3720A>G

1 paper

NM_000179.3

p.C1241delFs

c.3721delT

1 paper

NM_000179.3

p.C1241_R1242del2

c.3721_3725del6

1 paper

NM_000179.3

p.C1241fs

c.3721_3722fs

1 paper

NM_000179.3

p.C1241fs

c.3721_3722fs

14 papers

NM_000179.3

p.R1242del1

c.3724_3726delCGT

2 papers

NM_000179.3

p.C1241Y

c.3722G>A

1 paper

NM_000179.3

p.C1241_F1245delFs

c.3723_3735del13

2 papers

NM_000179.3

p.R1242_H1248del0

c.3725_3742del18

1 paper

NM_000179.3

p.K1240insFs

c.3720dupA

2 papers

NM_000179.3

p.I1239fs

c.3715_3716fs

2 papers

NM_000179.3

p.I1239fs

c.3715_3716fs