Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_000051.4

p.S1092*

c.3275C>G

Surrounding Variants

8 papers

NM_000051.4

p.S1092*

c.3275C>A

1 paper

NM_000051.4

p.S1092insFs

c.3275_3276insA

4 papers

NM_000051.4

p.S1092L

c.3275C>T

1 paper

NM_000051.4

p.I1093delFs

c.3277delA

1 paper

NM_000051.4

p.S1092P

c.3274T>C

1 paper

NM_000051.4

p.S1092fs

c.3274_3275fs

1 paper

NM_000051.4

p.I1093insFs

c.3277_3278insG

1 paper

NM_000051.4

p.I1093fs

c.3277_3278fs

3 papers

NM_000051.4

p.I1093V

c.3277A>G

1 paper

NM_000051.4

p.I1093fs

c.3277_3278fs

1 paper

NM_000051.4

p.E1091E

c.3273G>A

2 papers

NM_000051.4

p.E1091D

c.3273G>C