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

3 papers

NM_000051.4

p.L581delFs

c.1741_1742delTT

Surrounding Variants

1 paper

NM_000051.4

p.L580P

c.1739T>C

11 papers

NM_000051.4

p.L581V

c.1741T>G

2 papers

NM_000051.4

p.L581fs

c.1741_1742fs

2 papers

NM_000051.4

p.L580F

c.1738C>T

1 paper

NM_000051.4

p.L581*

c.1742T>A

1 paper

NM_000051.4

p.L581insFs

c.1743dupA

12 papers

NM_000051.4

p.W579*

c.1737G>A

1 paper

NM_000051.4

p.W579C

c.1737G>C

1 paper

NM_000051.4

p.W579C

c.1737G>T

1 paper

NM_000051.4

p.L580_L581del2

c.1738_1742del6

11 papers

NM_000051.4

p.W579*

c.1736G>A

52 papers

NM_000051.4

p.F582L

c.1744T>C