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.L1244del1

c.3730_3731delTTA

Surrounding Variants

3 papers

NM_000179.3

p.T1243_L1244insFs

c.3729_3732dup4

1 paper

NM_000179.3

p.T1243fs

c.3727_3728fs

1 paper

NM_000179.3

p.T1243_L1244insCCT

c.3727_3731ins9

4 papers

NM_000179.3

p.L1244_F1245insFs

c.3732_3735dup4

2 papers

NM_000179.3

p.T1243T

c.3729A>G

1 paper

NM_000179.3

p.T1243A

c.3727A>G

21 papers

NM_000179.3

p.T1243S

c.3727A>T

1 paper

NM_000179.3

p.L1244_T1247del4

c.3730_3740del12

1 paper

NM_000179.3

p.L1244fs

c.3730_3731fs

26 papers

NM_000179.3

p.R1242H

c.3725G>A

2 papers

NM_000179.3

p.R1242L

c.3725G>T

1 paper

NM_000179.3

p.L1244*

c.3731T>A