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

7 papers

NM_000051.4

p.S2184T

c.6551G>C

Surrounding Variants

1 paper

NM_000051.4

p.I2185F

c.6553A>T

10 papers

NM_000051.4

p.I2185T

c.6554T>C

1 paper

NM_000051.4

p.E2183K

c.6547G>A

3 papers

NM_000051.4

p.E2183*

c.6547G>T

2 papers

NM_000051.4

p.G2186_E2187del2

c.6556_6560del6

2 papers

NM_000051.4

p.G2186R

c.6556G>A

2 papers

NM_000051.4

p.G2186R

c.6556G>C

3 papers

NM_000051.4

p.G2186V

c.6557G>T

1 paper

NM_000051.4

p.L2182P

c.6545T>C

1 paper

NM_000051.4

p.L2182V

c.6544C>G

1 paper

NM_000051.4

p.L2182L

c.6544C>T

14 papers

NM_000051.4

p.E2181D

c.6543G>C