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

1 paper

NM_000051.4

p.S497S

c.1491T>A

Surrounding Variants

1 paper

NM_000051.4

p.S497S

c.1491T>G

1 paper

NM_000051.4

p.S497Y

c.1490C>A

2 papers

NM_000051.4

p.E498Q

c.1492G>C

2 papers

NM_000051.4

p.E498*

c.1492G>T

1 paper

NM_000051.4

p.S497_E498insA

c.1489_1493ins3

1 paper

NM_000051.4

p.S497_I500delFs

c.1490_1500del11

2 papers

NM_000051.4

p.E498D

c.1494G>C

1 paper

NM_000051.4

p.Q499insFs

c.1495_1496dupCA

2 papers

NM_000051.4

p.E498D

c.1494G>T

1 paper

NM_000051.4

p.S496R

c.1488T>A

1 paper

NM_000051.4

p.S496S

c.1488T>C

1 paper

NM_000051.4

p.S496R

c.1488T>G