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.V1152L

c.3454G>C

Surrounding Variants

1 paper

NM_000179.3

p.V1152_M1153insFs

c.3456_3457ins4

5 papers

NM_000179.3

p.M1153_Q1155del3

c.3457_3464del9

3 papers

NM_000179.3

p.A1151G

c.3452C>G

2 papers

NM_000179.3

p.A1151V

c.3452C>T

2 papers

NM_000179.3

p.M1153V

c.3457A>G

1 paper

NM_000179.3

p.A1151fs

c.3451_3452fs

1 paper

NM_000179.3

p.M1153K

c.3458T>A

1 paper

NM_000179.3

p.M1153T

c.3458T>C

1 paper

NM_000179.3

p.A1154T

c.3460G>A

1 paper

NM_000179.3

p.A1151_Y1159delFs

c.3451_3476del26

5 papers

NM_000179.3

p.A1154V

c.3461C>T

7 papers

NM_000179.3

p.Q1155*

c.3463C>T