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.T548I

c.1643C>T

Surrounding Variants

3 papers

NM_000051.4

p.T548A

c.1642A>G

1 paper

NM_000051.4

p.S549G

c.1645A>G

1 paper

NM_000051.4

p.T547T

c.1641C>T

3 papers

NM_000051.4

p.T547I

c.1640C>T

3 papers

NM_000051.4

p.S549N

c.1646G>A

1 paper

NM_000051.4

p.S549T

c.1646G>C

1 paper

NM_000051.4

p.S549I

c.1646G>T

1 paper

NM_000051.4

p.S549R

c.1647T>G

1 paper

NM_000051.4

p.I550L

c.1648A>C

11 papers

NM_000051.4

p.I550V

c.1648A>G

1 paper

NM_000051.4

p.L546L

c.1638G>A

31 papers

NM_000051.4

p.L546V

c.1636C>G